Collagen VI-Related Muscle Disorder

Collagen VI-related muscle disorder is a group of rare genetic diseases that weaken the muscles of the body and also affect the soft connective tissue around the muscles, joints, and skin. In this disorder, muscles slowly lose strength, joints become stiff or too loose, and movement becomes more difficult over time. Collagen VI is a special support protein that sits outside the muscle cells in a web called the “extracellular matrix.” It works like a soft net that holds muscle cells in the right place and protects them from damage when we move. Changes (mutations) in the COL6A1, COL6A2, or COL6A3 genes stop collagen VI from forming a normal net, so muscle cells become fragile and are easier to damage.

Collagen VI-related muscle disorder is a group of rare genetic muscle diseases where a protein called collagen VI does not work properly. Collagen VI normally sits outside muscle cells and acts like a soft net or scaffold that holds the muscle fibres in place and protects them from damage. When the genes for collagen VI (COL6A1, COL6A2, COL6A3) are changed, muscles become weak and joints can become stiff or too loose. This group includes Bethlem myopathy, Ullrich congenital muscular dystrophy, and forms in between these two. [1]

People with collagen VI-related muscle disorder may have low muscle tone in early life, slow motor development, difficulty running or climbing stairs, joint contractures (joints that cannot fully straighten), very flexible hands and feet, curved spine, and breathing problems, especially during sleep. The condition is long-term and usually slowly gets worse over many years. There is no cure yet, but many treatments can improve comfort, independence, and life expectancy if started early and followed regularly. [2]

Collagen VI-related muscle disorder is not just one single disease. It is a “spectrum,” which means there is a mild end, a middle form, and a severe end. The mild end is called Bethlem muscular dystrophy, the severe end is called Ullrich congenital muscular dystrophy, and the middle form is called intermediate collagen VI-related dystrophy. All of them share muscle weakness and joint problems but with different ages of onset and different speed of worsening.

When collagen VI is missing or not working well, the outer support around muscle fibers is weak. This can disturb cell survival signals, the way cells recycle waste (autophagy), and the structure of tissues in muscle and lung. Step by step, this leads to muscle fiber damage, scar tissue, joint contractures, and later breathing problems because the diaphragm and chest muscles also become weak.

Other names

Doctors, families, and research papers may use several different names for this group of diseases. All of the names below are talking about the same general collagen VI-related muscle problem or a part of this spectrum.

• Collagen VI-related dystrophy (often written as COL6-RD)

• Collagen VI-related myopathy

• Collagen VI muscular dystrophy

• Collagen type VI-related disorders

• Bethlem muscular dystrophy / Bethlem myopathy

• Ullrich congenital muscular dystrophy

• Intermediate collagen VI-related muscular dystrophy

Types of collagen VI-related muscle disorder

Bethlem muscular dystrophy (mild type)
Bethlem muscular dystrophy is the mild end of the collagen VI-related spectrum. Children or adults usually have slowly progressive weakness of the hips and shoulders, with tightness of some joints such as the elbows, fingers, and ankles. Many people can walk for many years, but they may struggle with stairs, running, or getting up from the floor.

Intermediate collagen VI-related dystrophy (middle type)
The intermediate form sits between Bethlem and Ullrich. Babies or young children often have weak muscles and low muscle tone, and they may walk later than other children. Walking is usually possible for some years, but over time joint contractures, spine stiffness, and lung problems become more obvious, so many patients later need a wheelchair and breathing support at night.

Ullrich congenital muscular dystrophy (severe type)
Ullrich congenital muscular dystrophy is the most severe type. Weakness and low muscle tone are present from birth or early infancy. Babies may never learn to walk independently, they often have very loose joints in hands and feet but stiff joints near the hips and shoulders, and they can develop severe spine curvature and early breathing failure.

Causes

Remember: all main causes are different kinds of gene changes affecting collagen VI. There is no infection or lifestyle cause.

1. Mutation in the COL6A1 gene
   One common cause is a harmful change (mutation) in the COL6A1 gene, which gives the body instructions to make one chain of collagen VI. When this gene is changed, the collagen VI net is built in the wrong way, and muscle cells become unstable and weak.

2. Mutation in the COL6A2 gene
   A second main cause is a mutation in the COL6A2 gene. This gene makes another part of collagen VI. If it is faulty, the whole collagen VI structure may not form properly, so the muscle tissue around the fibers loses its normal support and protection.

3. Mutation in the COL6A3 gene
   Changes in the COL6A3 gene can also cause collagen VI-related muscle disorder. This gene creates the third chain in the collagen VI triple helix. A problem here can stop the chains from fitting together, so the final collagen VI protein is missing or abnormal in the muscle.

4. Dominant (one-copy) mutations
   Some mutations act in a “dominant” way, which means that changing just one copy of the COL6 gene is enough to cause disease. These dominant mutations can interfere with normal collagen VI made by the other healthy copy, and this is often seen in milder forms like Bethlem muscular dystrophy.

5. Recessive (two-copy) mutations
   Other patients have “recessive” disease, where both copies of the COL6 gene are damaged. In this case, not enough normal collagen VI is made at all, and this tends to cause more severe forms such as Ullrich congenital muscular dystrophy, especially when the mutations stop the protein being produced.

6. Glycine substitution mutations in the collagen helix
   Some mutations change a special amino acid called glycine inside the collagen VI triple helix. Even a single swap of glycine can twist the helix out of shape, so the collagen chain cannot pack correctly with the other chains. This “glycine substitution” can strongly disturb collagen VI assembly and is a known disease mechanism.

7. Exon-skipping splice mutations
   Certain mutations affect how the gene message is cut and joined (splicing) so that one or more exons (small coding blocks) are skipped. The missing exon changes the length and structure of the collagen VI chain, leading to unstable collagen and poor formation of the microfibril network around muscle cells.

8. Large gene deletions or duplications
   Some patients have large sections of the COL6 genes missing (deletion) or repeated (duplication). These big changes usually stop the gene from making a correct protein. As a result, there is a major drop in collagen VI at the protein level, which shows up in muscle or skin fibroblast tests.

9. Nonsense or frameshift mutations
   Nonsense and frameshift mutations create a “stop” signal too early in the gene, so the cell makes only a short, incomplete protein. This shortened collagen VI chain is quickly broken down or cannot join the other chains, so the total collagen VI around the muscle is greatly reduced.

10. Mutations affecting secretion of collagen VI
    Some mutations allow collagen VI to be made inside the cell but prevent it from being secreted outside to the extracellular matrix. In these cases, collagen VI is trapped inside fibroblasts or muscle cells and cannot form the normal outside microfibrils, so the tissue support is still lost.

11. Mutations causing abnormal collagen VI distribution
    In some people, collagen VI is produced but sits in the wrong pattern in the tissue. Immunostaining may show patchy or reduced staining around muscle fibers or in skin fibroblasts. This abnormal distribution leads to uneven mechanical support and contributes to weakness and contractures.

12. De novo (new) mutations
    Many patients have mutations that are not present in their parents. These are called de novo mutations and happen for the first time in the egg or sperm. The child still has a collagen VI-related muscle disorder, even though there is no family history, which is common in severe Ullrich cases.

13. Mosaicism in a parent
    Sometimes, one parent carries the mutation only in some of their cells (mosaicism), so they may be healthy or very mildly affected. However, they can still pass the mutation on to a child, who may then have a full collagen VI-related disorder. This makes family inheritance patterns more complex.

14. Variants that weaken collagen VI interaction with other matrix proteins
    Some gene variants may change parts of collagen VI that bind to other matrix proteins like collagen IV or fibronectin. When these interactions are weaker, the whole extracellular matrix network becomes less stable, which can worsen muscle damage during normal movement.

15. Variants that disturb cell survival and autophagy signaling
    Collagen VI is not only structural; it also sends signals that help cells survive and recycle damaged parts. Loss of collagen VI can disturb pathways like Akt and mTOR, leading to impaired autophagy, more cell stress, and increased muscle fiber death over time.

16. Genetic background and modifier genes
    Other genes in a person’s genome can change how strong or mild the disease becomes, even when the main COL6 mutation is the same. These “modifier” genes may affect muscle repair, fibrosis, or inflammation and help explain why some family members are more affected than others.

17. Epigenetic changes
    Epigenetic changes are chemical marks on DNA that control how much of a gene is turned on or off without changing the DNA letters. Research suggests that epigenetic marks can influence collagen VI production and fibrosis pathways, which may make disease more or less severe in different people.

18. Tissue fibrosis driven by abnormal collagen VI
    Abnormal collagen VI can act as a driver of fibrosis (scar-like tissue) in muscles and possibly lungs. Extra or mis-shaped collagen VI fragments may promote fibrotic signals, causing stiff tissue and making it harder for muscles to stretch and work properly.

19. Secondary respiratory muscle weakness
    Over time, the same gene changes that weaken limb muscles also weaken the diaphragm and chest muscles. This secondary effect leads to poor lung expansion, reduced cough strength, and chronic under-ventilation, especially during sleep, which is a major cause of health problems in these disorders.

20. Complex combination of multiple mutation effects
    In many patients, the final disease picture is caused by a mix of different mutation effects: reduced collagen VI amount, abnormal structure, disturbed cell survival, and progressive fibrosis. Together, these changes lead to the typical combination of muscle weakness, contractures, loose distal joints, spine problems, and breathing issues.

Symptoms

1. Slowly worsening muscle weakness
   Most people have muscle weakness that gets worse over many years. The weakness usually begins in the muscles close to the trunk, such as hips and shoulders, so standing up, walking long distances, and lifting the arms over the head become difficult.

2. Low muscle tone (floppy muscles) in babies
   In severe forms, babies may feel “floppy” when held, because their muscles have low tone. They may have trouble holding up the head, rolling, or sitting at the expected age, which is often the first sign that something is wrong.

3. Delayed motor milestones
   Children with collagen VI-related muscle disorder may sit, stand, or walk later than other children. They may need to use furniture to pull themselves up or may never learn to run or hop, especially in the intermediate and severe forms.

4. Difficulty climbing stairs and getting up from the floor
   One of the early practical problems is going up stairs or getting up from sitting on the floor. Children may need to use both hands on their legs to push themselves upright, a sign of proximal muscle weakness.

5. Joint contractures (stiff joints)
   Over time, many joints become stiff and cannot fully straighten. Common places include elbows, knees, ankles, and fingers. These contractures make walking and hand use harder and can cause pain or make daily activities slow and tiring.

6. Distal joint hyperlaxity (very loose small joints)
   At the same time, some small joints, especially in hands and feet, may be abnormally loose or bend backwards more than normal. This mix of loose distal joints and stiff large joints is very typical in Ullrich congenital muscular dystrophy.

7. Spine problems (rigid spine, scoliosis, or kyphosis)
   The spine can become stiff and less able to bend (rigid spine), or it may curve sideways (scoliosis) or forward (kyphosis). These spine curves can cause back pain, cosmetic concerns, problems with balance, and can further reduce lung capacity.

8. Breathing problems and sleep-related hypoventilation
   Because the diaphragm and chest wall muscles get weak, breathing becomes shallow, especially when lying down or during sleep. People may wake with headaches, feel very tired in the morning, or have morning irritability and trouble concentrating because of poor night-time ventilation.

9. Frequent chest infections and weak cough
   Weak respiratory muscles also mean a weak cough. Mucus is not cleared well from the lungs, so chest infections like pneumonia can happen more often and can be more serious. This is a major reason why good respiratory care is important in collagen VI-related disorders.

10. Fatigue and reduced exercise tolerance
    Because muscles cannot work as strongly or as long, many people feel tired quickly when walking, climbing, or doing daily tasks. Fatigue can be worsened by poor sleep due to breathing problems, so even small efforts may cause big tiredness.

11. Joint pain and muscle discomfort
    Joint contractures, spine curves, and abnormal posture can cause aching pain in the back, hips, knees, and feet. Muscles that are weak may also hurt after activity. Pain can limit physical therapy and make school or work more difficult.

12. Skin changes and poor wound healing
    Some people have rough, bumpy skin on the arms and thighs (follicular hyperkeratosis), velvety skin on the palms and soles, or keloid scars that grow larger than the original wound. Wounds may heal slowly and leave thick or atrophic scars.

13. Contractures of the neck and jaw area
    Tightness can also affect the neck and jaw, making it hard to turn the head fully or open the mouth wide. This can cause difficulties with dental care, swallowing in some cases, and may complicate anesthesia or intubation during surgery.

14. Normal or near-normal heart function
    Unlike some other muscular dystrophies, the heart muscle is usually not strongly affected in collagen VI-related disorders. Most patients have normal heart pumping and rhythm, although doctors still monitor the heart to be safe.

15. Preserved intelligence and school learning
    Most children and adults with collagen VI-related muscle disorder have normal to high intelligence. Learning problems, when present, are usually related to fatigue, medical appointments, or breathing issues rather than brain damage, so educational support can help them succeed at school.

Diagnostic tests

Physical exam tests

1. General neurological and muscle examination
   The doctor first does a careful physical exam. They look at posture, muscle bulk, and reflexes and check which muscle groups are weak or tight. The pattern of weak muscles and contractures, together with loose small joints, can raise strong suspicion of a collagen VI-related disorder.

2. Observation of gait and movement
   The doctor watches how the person walks, stands up from a chair, climbs onto the exam table, and moves the arms. A waddling gait, use of hands to push on the thighs, and difficulty running or hopping are important clues that the hip and thigh muscles are weak in a myopathic pattern.

3. Joint range-of-motion and contracture testing
   Each major joint is gently moved to see how far it can bend and straighten. In collagen VI-related disorders, there is often a special pattern of tight elbows, knees, ankles, and fingers combined with loose small joints, which helps separate this disease from other muscular dystrophies.

4. Distal joint hyperlaxity assessment
   The examiner checks how much the small joints in hands and feet can bend backwards, often using simple bedside scores. Very loose fingers and toes, together with stiff large joints, are a classic physical sign in Ullrich congenital muscular dystrophy.

5. Spine and chest wall examination
   The spine is inspected from the side and from behind to see if it is straight or curved. The doctor also checks whether the chest moves properly during breathing. Early detection of scoliosis and a rigid spine is important for planning physical therapy, bracing, or surgery.

6. Respiratory physical exam
   Listening to the lungs with a stethoscope, counting breathing rate, and watching the chest wall helps to identify shallow breathing and areas of poor air entry. These simple signs may suggest weak breathing muscles and the need for formal lung function tests.

Manual tests (bedside functional tests)

7. Manual muscle testing (MRC scale)
   The doctor tests each muscle or muscle group against resistance using their hands and grades the strength from 0 to 5. In collagen VI-related muscle disorder, there is usually more weakness in muscles close to the trunk, such as hips and shoulders, than in hands and feet.

8. Gowers’ maneuver assessment
   Children may be asked to rise from the floor without using furniture. If they need to place their hands on their legs and “climb up” their own body, this is called a positive Gowers’ sign and shows weakness of the hip and thigh muscles, common in myopathic disorders.

9. Timed rise from chair or stair-climb test
   Simple timed tests, such as how long it takes to stand from a chair or climb four stairs, help measure functional ability. Repeating these tests during follow-up visits shows whether the disease is stable or slowly getting worse.

10. Six-minute walk test (6MWT)
    If the patient can walk, they may be asked to walk for six minutes along a straight corridor. The total distance walked reflects endurance and lung and heart function together. Shorter distances over time can signal disease progression or breathing decline.

Lab and pathological tests

11. Serum creatine kinase (CK) level
    A simple blood test measures CK, an enzyme released when muscles are damaged. In collagen VI-related disorders, CK is often normal or only mildly raised, which helps separate this group from some other muscular dystrophies that have very high CK levels.

12. Genetic testing for COL6A1, COL6A2, and COL6A3
    The most specific test is DNA sequencing of the three collagen VI genes. Modern gene panels and exome sequencing can detect many different mutation types. Finding a disease-causing variant confirms the diagnosis and can guide family counseling and future treatment research.

13. Muscle biopsy with routine histology
    A small sample of muscle can be taken under local or general anesthesia. Under the microscope, doctors may see muscle fiber size variation, increased connective tissue, and mild dystrophic changes. These findings are not fully specific but support the diagnosis when combined with other tests.

14. Immunohistochemistry for collagen VI on muscle biopsy
    Special stains (antibodies) can be applied to the muscle sample to look directly at collagen VI. In collagen VI-related disorders, the staining may be reduced, patchy, or missing around muscle fibers, giving strong evidence that the disorder is due to abnormal collagen VI.

15. Skin biopsy with collagen VI study in fibroblasts
    Because collagen VI is also produced in skin fibroblasts, a small piece of skin can be taken and cells grown in the lab. Immunohistochemistry or flow cytometry then measures collagen VI around these cells. A big reduction or abnormal pattern supports the diagnosis, especially when muscle biopsy is hard to obtain.

16. Pulmonary function tests (spirometry and vital capacity)
    Blowing into a machine measures how much air the lungs can hold and how fast air is exhaled. Forced vital capacity is checked in sitting and lying positions; a drop when lying down suggests diaphragm weakness. Regular testing can detect early breathing decline before symptoms are obvious.

Electrodiagnostic tests

17. Nerve conduction studies (NCS)
    This test sends small electrical signals along the nerves to see how fast and how well they conduct. In collagen VI-related muscle disorders, nerve conduction is usually normal, which helps doctors rule out nerve diseases and confirm that the problem is mainly in the muscle.

18. Electromyography (EMG)
    A thin needle electrode is placed into muscles to record their electrical activity. In collagen VI-related myopathy, EMG often shows a “myopathic” pattern with small, short muscle unit signals and early recruitment, supporting a primary muscle disease rather than a nerve problem.

Imaging tests

19. Muscle MRI (magnetic resonance imaging)
    MRI scans of the thighs and lower legs can show a typical pattern of muscle involvement and fat replacement in collagen VI-related disorders. These patterns help doctors suspect collagen VI disease and choose which people should have detailed genetic testing for COL6 genes.

20. Muscle ultrasound
    Ultrasound uses sound waves to look at muscles without radiation. It can show increased brightness in muscles that are damaged or replaced by fat. In congenital muscular dystrophies, including collagen VI-related disorders, muscle ultrasound can support the diagnosis when MRI is not easily available.

Non-pharmacological treatments (therapies and others)

1. Regular physiotherapy and stretching
Physiotherapy uses gentle, planned movements to keep joints flexible and muscles as strong as possible. In collagen VI-related muscle disorder, daily or frequent stretching helps delay contractures in elbows, knees, hips, and ankles and keeps the spine straighter for longer. The purpose is to maintain function and reduce pain. The main mechanism is simple: regular movement stops tendons, ligaments, and joint capsules from tightening and helps muscles work in their best range. [3]

2. Occupational therapy for daily activities
Occupational therapists teach easier and safer ways to do daily tasks like dressing, washing, writing, or computer work. They may suggest adapted tools such as special cutlery, writing aids, or chairs with arm support. The purpose is to save energy and protect weak muscles and joints. This works by changing the “how” of activities and the environment rather than changing the body, so the person can stay independent for longer. [4]

3. Orthoses and braces for joints
Ankles, knees, wrists, and fingers may need braces or splints to keep them in a good position. Night splints for ankles or wrists can slow down contractures, and soft collars can sometimes help the neck. The purpose is to support weak muscles, keep joints aligned, and prevent deformity. The mechanism is mechanical support: the brace holds the limb in a safe angle so gravity and tight muscles do not pull it into a harmful position over time. [5]

4. Posture management and seating
Special seats, cushions, and wheelchairs are used to keep the spine straight, support the head, and protect the hips. Good seating reduces pain, makes breathing easier, and helps swallowing and speech. The mechanism is again mechanical: strong support under the pelvis and back spreads pressure, prevents sliding, and keeps the chest open so lungs can expand better during breathing. [6]

5. Respiratory physiotherapy
Because breathing muscles can become weak, people may learn breathing exercises, coughing techniques, and use of devices that help clear mucus from the lungs. The purpose is to prevent chest infections and to keep oxygen levels safe, especially during sleep. It works by improving airflow, helping mucus move out of the small airways, and training the chest wall to move as fully as possible. [7]

6. Non-invasive ventilation at night
Some people need a mask connected to a small machine that helps them breathe while sleeping. This mask gives gentle air pressure to support weak breathing muscles. The goal is to prevent low oxygen and high carbon dioxide levels, morning headaches, and poor sleep. The mechanism is simple: the machine pushes air into the lungs so the respiratory muscles do not have to work as hard, especially when lying flat. [8]

7. Aquatic (water) therapy
Exercises in warm water use buoyancy to support the body so weak muscles can move more freely. The purpose is to improve comfort, range of motion, and mild strength without overloading joints. Water reduces body weight, which reduces stress on hips, knees, and spine, while gentle resistance from water helps muscles work in a safe, controlled way. [9]

8. Low-impact aerobic exercise
Activities like slow cycling on a stationary bike, arm ergometry, or gentle swimming can improve heart and lung fitness. The purpose is to fight tiredness, support mental health, and help weight control. The mechanism is training the cardiovascular system: regular light exercise improves circulation and oxygen delivery without requiring strong bursts from weakened muscles. Exercise plans must always be approved and supervised by the care team. [10]

9. Gentle strengthening and endurance training
Light resistance and many repetitions (for example with elastic bands) can help muscles keep what strength they still have. The goal is not to build big muscles, but to slow down weakness and improve day-to-day function. The mechanism is training remaining muscle fibres in a safe way, without pushing to exhaustion, so that they stay active and efficient. Over-exercise can be harmful, so a physiotherapist should design the program. [11]

10. Pain management strategies and pacing
People learn to listen to their body and balance activity with rest. Techniques include planning the day, splitting tasks into smaller steps, using heat packs or gentle massage, and avoiding positions that cause pain. The purpose is to reduce chronic pain and fatigue. The mechanism is behavioural: by limiting overuse and avoiding extreme strain, there is less micro-damage to muscles and joints, which lowers pain signals over time. [12]

11. Sleep hygiene and positioning
Using supportive pillows, wedges, and mattresses can keep the body in comfortable positions at night. Good sleep habits like a regular bedtime, a dark room, and quiet environment also help. The purpose is to improve sleep quality, which affects energy, mood, and pain. Better positioning reduces pressure on joints and lungs, helping breathing and preventing morning stiffness. [13]

12. Speech and swallowing therapy
If neck, facial, or throat muscles are weak, speech-language therapists can teach safe swallowing techniques and ways to communicate more clearly. They might suggest different food textures or special cups. The purpose is to avoid choking, weight loss, and social isolation. The mechanism is learning new patterns of tongue, jaw, and head movements and adapting food and liquids to what is safe for that person. [14]

13. Nutritional counselling
Dietitians help plan meals that give enough energy, protein, vitamins, and minerals without causing weight gain that might stress weak muscles. For some, soft or blended foods are needed. The purpose is to keep a healthy weight and strong immune system. The mechanism is simple: balanced nutrition supports muscle repair, bone health, and resistance to infection, which is vital in progressive muscle disorders. [15]

14. Psychological support and counselling
Living with a rare, long-term muscle disease can be emotionally hard. Counselling, support groups, and mental health care help people cope with anxiety, depression, and stress. The purpose is to protect emotional well-being and family relationships. Talking therapy works by giving a safe space to express feelings, learn coping skills, and adjust expectations while staying hopeful and realistic. [16]

15. Genetic counselling for families
Genetic counsellors explain how the condition is inherited, what the chances are for other children or relatives, and what testing options exist. The purpose is to support informed family planning and to help relatives understand their own risk. The mechanism is education: clear, accurate information reduces fear and confusion and helps families make decisions that match their values. [17]

16. Home and school adaptations
Ramps, lifts, bathroom rails, adapted desks, and accessible classrooms make it easier to move and learn. Teachers can offer extra time for writing, use of laptops, or help during physical education. The purpose is to keep education and social life as normal as possible. The mechanism is removing physical barriers so limitations are in the environment, not in the child’s abilities. [18]

17. Assistive technology and communication tools
Devices such as powered wheelchairs, voice-activated computers, tablets, and environmental controls (for lights or doors) allow independence even with very weak muscles. The purpose is to improve quality of life and reduce caregiver strain. These tools work by replacing muscle power with electrical or mechanical power, letting the person control their surroundings with minimal movement. [19]

18. Infection prevention habits
Simple measures like regular hand-washing, keeping vaccinations up to date, avoiding tobacco smoke, and early treatment of colds can prevent serious chest infections. The purpose is to protect lungs that may already be weak. The mechanism is reducing the number of germs reaching the lungs and improving the body’s ability to fight them, which lowers the risk of pneumonia and hospital stays. [20]

19. Regular multidisciplinary clinic visits
Care at a neuromuscular clinic with doctors, physiotherapists, respiratory specialists, and dietitians allows early detection of problems. The purpose is proactive care, not just reacting to crises. Regular checks on breathing, spine shape, heart, and nutrition let the team adjust treatments before complications grow serious. [21]

20. Community and peer support
Charities and patient organizations connect families with others facing the same condition. Online groups and local meetings provide practical tips and emotional comfort. The purpose is to reduce loneliness and share realistic experiences. Support networks work by giving people role models, information about services, and a sense that they are not facing the disease alone. [22]

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Drug treatments

(Important: The medicines below are general examples often used to manage symptoms in neuromuscular conditions. Doses, timing, and choices must always be decided by a doctor who knows the person. This information is not personal medical advice.)

1. Paracetamol (acetaminophen)
Paracetamol is a simple pain and fever medicine used for mild aches and pains in muscles and joints. It belongs to the analgesic and antipyretic class. It is usually taken several times a day in small, carefully spaced doses as prescribed. It works mainly inside the brain to change how pain signals and temperature are processed. Common problems with high or long use are liver damage and, rarely, skin reactions, so dosing limits are very important. [23]

2. Ibuprofen and other NSAIDs
Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) that helps with pain from inflamed joints, back pain, or minor injuries. It is usually taken with food, several times per day, for the shortest time needed, following the label or doctor’s plan. It blocks enzymes (COX-1 and COX-2) that produce prostaglandins, which drive pain and swelling. Side effects include stomach irritation, kidney stress, and a higher risk of heart attack or stroke if used in high doses or for long periods. [24]

3. Baclofen (oral)
Baclofen is a muscle relaxant used to treat spasticity, stiffness, or painful spasms, especially when there is spinal cord or central nervous system involvement. It is a gamma-aminobutyric acid (GABA) agonist. Doctors start with low doses in divided amounts and slowly adjust based on effect and side effects. It acts on GABA-B receptors in the spinal cord to reduce the release of excitatory neurotransmitters and calm overactive reflexes. Side effects may include drowsiness, dizziness, weakness, and serious withdrawal reactions if stopped suddenly. [25]

4. Intrathecal baclofen (pump)
In some severe cases of spasticity, baclofen can be delivered directly into the fluid around the spinal cord by a small pump under the skin. This allows lower total doses with strong local effect. The purpose is to control stiffness that cannot be managed by oral drugs alone. The mechanism is targeted delivery to the spinal cord, but the system needs surgery and careful monitoring. Side effects include pump complications, infection, overdose, or withdrawal if the pump fails, so it is used only in highly selected patients. [26]

5. Gabapentin
Gabapentin is an anti-seizure medicine often used for nerve-type pain, such as burning, shooting, or tingling pain in muscles and limbs. It is usually taken once or several times a day, and doses are changed depending on kidney function and response. Gabapentin works by binding to calcium channels in nerve cells and reducing abnormal firing and release of excitatory neurotransmitters. Side effects include sleepiness, dizziness, weight gain, and mood changes; very rarely it can increase suicidal thoughts, so mood must be watched carefully. [27]

6. Pregabalin
Pregabalin is related to gabapentin and is also used for neuropathic pain and sometimes anxiety. It is in the class of calcium channel modulators and is usually taken twice daily as directed. It binds to the alpha-2-delta subunit of voltage-gated calcium channels, calming overactive nerves. Side effects are similar to gabapentin and include dizziness, drowsiness, swelling of the legs, and weight gain. Doctors choose and adjust it very carefully in people with muscle disorders who may already be weak or tired. [28]

7. Short-acting benzodiazepines (for example, diazepam)
Diazepam and similar drugs are sometimes used for short periods to treat painful spasms or severe anxiety related to procedures. They belong to the benzodiazepine class and are usually taken at bedtime or before specific events. They enhance GABA-A receptor activity, making nerve cells less excitable. Side effects include strong sleepiness, breathing suppression, dependence, and withdrawal problems, so they are used sparingly and under close supervision, especially if breathing muscles are weak. [29]

8. Proton pump inhibitors (for example, omeprazole)
People with weak trunk muscles may have reflux (acid coming back up from the stomach). Proton pump inhibitors (PPIs) like omeprazole reduce acid production in the stomach. They are usually taken once daily before a meal. They block the proton pump in stomach cells, lowering acid levels and reducing heartburn, cough, and damage to the food pipe. Long-term use can cause low magnesium, vitamin B12 deficiency, and increased infection risk, so the lowest effective dose is preferred. [30]

9. Osmotic laxatives (for example, polyethylene glycol)
Limited mobility can lead to constipation. Osmotic laxatives draw water into the bowel to soften stool and make it easier to pass. They are usually taken once daily, mixed with water or juice, as directed by a doctor. The mechanism is physical: more water in the bowel makes stool bulky and soft, stimulating natural movement. Side effects include bloating, gas, and cramps; overuse may disturb salt balance, so careful dosing is important. [31]

10. Stool softeners and mild stimulants (for example, docusate with or without senna)
Sometimes a combination of a softener and a mild stimulant is used for stubborn constipation. The softener helps water mix into the stool, while the stimulant gently increases bowel muscle activity. They are usually taken once or twice daily. Side effects can include cramping, diarrhea, and, with long-term heavy use, dependency of the bowel on the stimulant, so medical advice is needed. [32]

11. Inhaled bronchodilators (for example, salbutamol / albuterol)
If there is co-existing asthma or airway narrowing, inhaled bronchodilators can open the airways and improve breathing comfort. These beta-2 agonists are taken as puffs from an inhaler or through a nebulizer, usually when needed or on a schedule. They relax smooth muscle in the airway walls. Side effects may include tremor, fast heartbeat, and jitteriness, so monitoring is vital in people with cardiac or respiratory weakness. [33]

12. Inhaled corticosteroids
In some people with asthma-like inflammation, inhaled steroids reduce airway swelling and mucus production. They are taken regularly through an inhaler to prevent attacks. These drugs act inside airway cells to switch off inflammatory genes. Side effects include hoarse voice, oral thrush, and, with high long-term doses, small effects on growth or bone, so mouth rinsing and dose review are important. [34]

13. Antibiotics for chest infections
Because cough may be weak, chest infections can become serious. Doctors may give antibiotics like amoxicillin or macrolides when there are clear signs of bacterial infection. These drugs kill or stop the growth of bacteria in the lungs. They are taken for a limited course. Side effects include allergy, diarrhea, and, with some agents, heart rhythm problems, so the choice and dose must be personalised. [35]

14. Bisphosphonates (for example, alendronate)
Limited mobility can lead to weak bones (osteoporosis). Bisphosphonates are drugs that slow bone breakdown and help stabilize bone density. They are usually taken weekly or less often, with strict instructions about posture and timing. They work by binding to bone surfaces and blocking the cells that resorb bone. Side effects can include stomach upset, bone or joint pain, and very rare jaw or thigh bone problems, so dental checks and medical monitoring are needed. [36]

15. Vitamin D as a prescribed medicine
When vitamin D levels are very low, doctors may prescribe higher-dose vitamin D as a medicine rather than just a supplement. This is usually taken daily or weekly according to blood test results. Vitamin D helps the gut absorb calcium and supports bone and muscle function. Too much can cause high blood calcium, leading to nausea, confusion, or kidney problems, so blood tests guide dosing. [37]

16. Low-dose corticosteroids (short courses)
In selected situations, short courses of oral steroids like prednisone might be used to treat inflammation, severe asthma, or certain overlapping immune problems. They mimic natural cortisol and reduce inflammation throughout the body. Side effects include weight gain, mood changes, high blood sugar, high blood pressure, and weaker bones, especially with long use. Because muscle disease is already present, doctors are very cautious with steroids and use the lowest dose for the shortest possible time. [38]

17. Antidepressants and anti-anxiety medicines
Living with a chronic muscle disease can lead to depression or anxiety. In some cases, doctors may prescribe medicines like selective serotonin reuptake inhibitors (SSRIs). These act on brain chemicals to improve mood and reduce anxiety. Side effects may include stomach upset, sleep changes, and, in rare cases, mood worsening early in treatment. Medicines are only one part of care and are usually combined with counselling. [39]

18. Melatonin for sleep
Melatonin is sometimes used to help with sleep difficulties, especially when breathing equipment or physical discomfort makes sleep hard. It is a hormone-like substance that helps reset the sleep-wake cycle. It is usually taken in the evening. Side effects are generally mild, such as morning drowsiness or vivid dreams, but doses and timing should still be supervised by a doctor. [40]

19. Short-acting opioids (for example, tramadol) – specialist use only
For severe pain that does not respond to other medicines, doctors may sometimes use short-acting opioids such as tramadol. These act on opioid receptors in the brain and spinal cord to block pain signals. They are taken for as short a time as possible. Side effects include constipation, nausea, sleepiness, and risk of dependence or overdose, and they can depress breathing, so they must be used very carefully in people with respiratory weakness. [41]

20. Vaccines as part of medical treatment
Although vaccines are not “drugs” in the usual sense, they are an important medical tool. Influenza, pneumococcal, COVID-19, and other recommended vaccines help prevent infections that could seriously harm people with weak breathing muscles. They work by training the immune system to recognise germs before real infection happens. Side effects are usually mild, such as arm soreness or brief fever, but schedules should be discussed with a neuromuscular specialist. [42]

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Dietary molecular supplements

(Supplements should always be discussed with a doctor or dietitian, especially in children or people taking many medicines.)

1. Vitamin D
Vitamin D helps the body absorb calcium and supports bone and muscle function. In people with low sun exposure or limited mobility, levels can be low, increasing fracture risk. The dose depends on blood tests and age and should not be guessed. It works by binding to vitamin D receptors in many tissues and adjusting calcium and phosphate balance. Too much can cause high blood calcium, kidney stones, or confusion, so medical control is essential. [43]

2. Calcium
Calcium is a key building block for bones and is also involved in muscle contraction and nerve signalling. If diet is low in dairy or fortified foods, a calcium supplement may be recommended. Taken in split doses with food, it supports bone strength and reduces the risk of osteoporosis. The mechanism is straightforward: more calcium available in the gut leads to better bone mineralization when vitamin D is adequate. Excess calcium can cause constipation and, in rare cases, kidney stones. [44]

3. Omega-3 fatty acids (fish oil)
Omega-3 fats from fish oil or algae oil have mild anti-inflammatory effects and may support heart and brain health. They are usually taken once or twice daily in capsule or liquid form. Omega-3s are incorporated into cell membranes and can reduce the production of inflammatory molecules. Side effects include fishy aftertaste, mild stomach upset, and, at high doses, a small increase in bleeding risk, so they should be used cautiously with blood-thinning drugs. [45]

4. Coenzyme Q10
Coenzyme Q10 (CoQ10) is involved in energy production inside mitochondria, the “power plants” of cells. Some researchers are exploring mitochondrial-targeted treatments in collagen VI disorders, so CoQ10 is sometimes discussed as a supportive supplement. It is usually taken with meals to improve absorption. It helps shuttle electrons in the respiratory chain, supporting ATP (energy) production. Side effects are usually mild, such as stomach upset or headache, but evidence for clear benefit is still limited. [46]

5. L-carnitine
L-carnitine transports fatty acids into mitochondria to be used as fuel. In some muscle and mitochondrial conditions, it may help support energy metabolism, though data are mixed. It is usually taken in divided doses. The mechanism is metabolic support: improving the transport of long-chain fats into mitochondria. Side effects can include fishy body odour, nausea, or diarrhea, and it should be used only if a specialist recommends it. [47]

6. Creatine monohydrate
Creatine helps muscles quickly refill ATP during short bursts of activity. In some neuromuscular diseases, small studies suggest it may slightly improve strength or endurance, though benefits are modest and not guaranteed. It is usually taken daily with water or juice. It works by increasing muscle creatine phosphate stores, which buffer energy demands. Side effects include weight gain from water retention and very rare kidney strain at high doses; kidney function should be checked in long-term users. [48]

7. Magnesium
Magnesium is involved in muscle relaxation and nerve function. Low levels can cause cramps and fatigue. If blood tests show deficiency, supplements may be given, often in divided doses to reduce diarrhea. Magnesium acts as a cofactor for many enzymes and helps regulate muscle contraction and relaxation. Too much, especially in kidney disease, can cause low blood pressure, weakness, or heart rhythm problems, so it must be monitored. [49]

8. Antioxidant vitamins (vitamin C and E)
Oxidative stress (damage from reactive oxygen species) may play a role in muscle damage. Vitamins C and E are antioxidants that can mop up some of these reactive molecules. They are usually taken in moderate doses, not mega-doses. Their mechanism is donation of electrons to neutralize free radicals. Very high doses can interfere with other treatments or cause stomach upset, so balanced intake from diet plus careful supplements is safest. [50]

9. Probiotics
Probiotics are live “good” bacteria used to support gut health, especially if antibiotics are needed often. They are taken as capsules, powders, or yogurts. They work by restoring a healthy balance of bacteria in the intestine, which may improve digestion and immunity. Side effects are usually mild gas or bloating, but in very weak or immunocompromised people, probiotic use should be checked with a doctor. [51]

10. High-quality protein supplements
When eating enough protein is difficult because of poor appetite or chewing and swallowing issues, whey protein or similar products may help. They are usually taken between meals, as shakes or puddings. Protein provides amino acids needed to repair and maintain muscle tissue and other organs. If kidney function is reduced, protein intake needs careful control, so a dietitian should guide any long-term use. [52]

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Immune-boosting, regenerative and stem-cell-related drugs

1. Intravenous immunoglobulin (IVIG)
IVIG is a pooled antibody product given by drip into a vein. It is used in some immune-mediated muscle diseases, but not as standard treatment for pure collagen VI-related dystrophy. In very rare overlapping immune conditions, it can help reset abnormal immune responses. It works by supplying large numbers of normal antibodies that can block harmful autoantibodies and modulate immune cells. Side effects include headache, fever, blood clots, and kidney strain, so it is used only in hospital and only when strongly justified. [53]

2. Cyclosporin A (experimental mitochondrial-targeted therapy)
Research in animal models and early studies has looked at cyclosporin A, a drug that blocks a mitochondrial pore linked to cell death, as a possible treatment in collagen VI-related myopathies. The idea is to reduce mitochondrial dysfunction and prevent muscle fibre loss. It is a strong immunosuppressant, so side effects include kidney damage, high blood pressure, and infection risk. Because of these dangers and limited data, it is not routine care and should only be used within carefully designed studies. [54]

3. Mesenchymal stem cell therapies (research only)
Mesenchymal stem cells are special cells that can release helpful growth factors and sometimes turn into bone, cartilage, or muscle support cells. In theory, they might help repair or protect muscles in genetic myopathies. Some early-phase research is exploring this idea, but there is no proven benefit yet in collagen VI-related muscle disorder. Potential side effects include immune reactions, clots, and tumor risk, so such treatments should only be accessed through approved clinical trials, not unregulated clinics. [55]

4. Gene therapy approaches
Gene therapy aims to deliver correct copies of COL6 genes or to modify gene expression so that more normal collagen VI is produced. Viral vectors (such as AAV) are being studied in many muscle diseases. The mechanism would be long-term expression of healthier collagen VI in muscle tissue. At present, this is experimental, with unknown long-term effects and possible immune responses to the vector. Anyone considering gene therapy trials must discuss risks and benefits with a specialist team. [56]

5. Small-molecule mitochondrial protectors
Because mitochondrial dysfunction is part of collagen VI-related myopathies, researchers are testing drugs that protect mitochondria from stress and abnormal pore opening. These small molecules aim to stabilize energy production and reduce cell death. They may work by blocking specific channels or by improving antioxidant defences. Such drugs are not yet part of routine care and may have off-target side effects, so they are currently limited to laboratory and early clinical research. [57]

6. Future CRISPR and genome-editing strategies
CRISPR-based tools may one day correct COL6 gene mutations directly in muscle cells. The theoretical mechanism is editing the DNA sequence to restore a working collagen VI protein. However, this technology is still at an early stage, with concerns about accuracy, off-target edits, and long-term safety. For now, it remains a future possibility, and anyone reading about “gene editing cures” online should be cautious and rely on trusted clinical trial registries and expert advice. [58]

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Surgeries

1. Tendon lengthening (for example, Achilles tendon)
When ankle or knee contractures are severe and limit walking or standing, surgeons may lengthen tight tendons. The goal is to improve foot position, allow shoes or braces to fit better, and sometimes delay full loss of walking. The procedure works by carefully cutting and extending the tendon so the joint can move into a more neutral position. It is usually combined with physiotherapy and braces afterward to maintain the new range. [59]

2. Spinal fusion for scoliosis
If the spine curves strongly and keeps getting worse, a spinal fusion may be advised. Metal rods, screws, and bone grafts are used to straighten and stabilize the spine. The purpose is to improve sitting balance, reduce pain, and protect lung function. The mechanism is permanent joining of selected vertebrae so they no longer move against each other. This is major surgery and needs careful evaluation of breathing and heart function before and after. [60]

3. Foot and ankle corrective surgery
Some people develop severe foot deformities, such as high arches or turned-in feet, that make standing or wearing shoes hard even with braces. Surgical corrections reshape bones and soft tissues to achieve a more stable, plantigrade (flat) foot. The purpose is to reduce pain and improve positioning in standing frames or wheelchairs. As with other surgeries, careful post-operative physiotherapy is essential to keep gains. [61]

4. Tracheostomy for long-term ventilation
If non-invasive ventilation by mask is no longer enough, some patients may need a tracheostomy, a small opening in the neck into the windpipe. A tube connects to a ventilator, making breathing support more comfortable long term. The purpose is to secure the airway and improve quality of life for people needing 24-hour ventilation. Risks include infection, bleeding, and changes in speech, so the decision is very personal and made with a specialist team. [62]

5. Gastrostomy (feeding tube) placement
When chewing or swallowing is difficult, or when weight keeps dropping, a feeding tube can be placed directly into the stomach (usually by a small operation called PEG). The purpose is to give safe, reliable nutrition and medicines. It works by bypassing the mouth and throat, reducing the risk of choking and allowing feeds even when tired. As with any surgery, there are risks of infection or leakage, but many families find feeding becomes much less stressful. [63]

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Prevention of complications

1. Early diagnosis and regular follow-up – Knowing the condition early allows timely physiotherapy, breathing checks, and spine monitoring, which can delay many problems. [64]

2. Consistent stretching and posture care – Daily stretches and proper seating slow contractures and scoliosis, helping breathing and comfort. [65]

3. Respiratory monitoring and vaccinations – Regular lung tests, sleep studies, and vaccines (flu, pneumonia, COVID-19) lower the risk of severe chest illness. [66]

4. Healthy weight management – Keeping weight in a healthy range avoids extra load on weak muscles and helps breathing; both under- and overweight are harmful. [67]

5. Safe activity levels – Gentle, regular activity is helpful, but pushing to exhaustion or heavy weight-lifting may worsen muscle damage. Plans should be guided by physiotherapists. [68]

6. Skin and pressure-sore care – Changing position often, using cushions, and checking skin daily help avoid sores in people who sit or lie for long periods. [69]

7. Bone protection – Adequate calcium, vitamin D, safe standing frames, and sometimes bone-strengthening drugs reduce fracture risk. [70]

8. Infection control at home and school – Good hand hygiene, avoiding smoke, and staying away from people with serious infections protect vulnerable lungs. [71]

9. Mental health support – Early help for stress, low mood, or anxiety can prevent long-term psychological complications and support better treatment adherence. [72]

10. Planning for transitions – Moving from child to adult services, or from home to college or work, needs early planning to avoid gaps in care and equipment. [73]

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When to see doctors

People with collagen VI-related muscle disorder should see their neuromuscular team regularly, usually at least once a year, and more often if problems are changing. You should arrange an urgent review if there is new or suddenly worse shortness of breath, morning headaches, very disturbed sleep, repeated chest infections, fast worsening of spine or joint contractures, new trouble swallowing or choking, unexplained weight loss, severe or new pain, or major mood or behaviour change. Any fever with breathing difficulty, blue lips, or confusion is an emergency and needs immediate medical attention. [74]

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What to eat and what to avoid

1. Focus on balanced meals – Include fruits, vegetables, whole grains, lean protein, and healthy fats to support muscles, bones, and immunity. [75]

2. Adequate protein intake – Foods like fish, chicken, eggs, beans, and dairy provide amino acids needed for muscle maintenance and repair. [76]

3. Plenty of fibre and fluids – Whole grains, fruits, vegetables, and enough water help prevent constipation, which is common with low mobility. [77]

4. Vitamin D and calcium-rich foods – Dairy, fortified plant milks, and some fish, plus safe sun exposure, support strong bones. [78]

5. Healthy fats from fish, nuts, and seeds – These provide omega-3 and other fats that support heart and brain health and may reduce inflammation. [79]

6. Limit sugary drinks and junk food – High-sugar, high-fat snacks add calories without nutrition and can lead to weight gain that stresses weak muscles. [80]

7. Avoid very salty, heavily processed foods – Too much salt can worsen blood pressure and swelling, especially if mobility is low. [81]

8. Be careful with alcohol (for adults) – Alcohol can worsen balance, damage muscles and nerves, and interact with medicines, so it should be limited or avoided. [82]

9. Choose safe textures – If swallowing is difficult, softer foods, thickened liquids, and small bites can reduce choking risk; a speech therapist should guide these changes. [83]

10. Discuss any special diet with professionals – Extreme diets, high-dose supplements, or internet “cures” can be harmful or interact with medicines. Always check with the neuromuscular team or dietitian before big changes. [84]

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Frequently asked questions (FAQs)

1. Is collagen VI-related muscle disorder curable?
At present there is no cure that can fully reverse the genetic change or restore normal collagen VI in all muscles. Treatment focuses on slowing progression, preventing complications, and improving comfort and independence. Research into gene therapy, mitochondrial protection, and other advanced treatments is active, so future options may improve, but they are not yet standard care. [85]

2. Is it always severe?
No. Collagen VI-related conditions form a spectrum. Ullrich congenital muscular dystrophy is usually more severe and starts in early infancy, while Bethlem myopathy is generally milder and may present later in childhood or even adulthood. Many people fall in between. How fast it progresses and how it affects breathing and mobility varies widely from person to person. [86]

3. Can a child with this condition go to school?
Yes. With proper supports such as wheelchair access, adapted desks, and help for writing or carrying items, many children attend mainstream school. Some may need special education services or shorter days. The key is teamwork between family, school, and medical staff to create a plan that balances learning, rest, and medical needs. [87]

4. Will my child lose the ability to walk?
Some children never walk independently and need wheelchairs early in life, while others walk into adult years and may use a wheelchair mainly for distance or fatigue. Even if walking is lost, good physiotherapy, seating, and respiratory care can maintain a high quality of life. Doctors can sometimes estimate risk based on early motor milestones and genetic results. [88]

5. How does the condition affect breathing?
Breathing muscles, especially the diaphragm, can weaken over time. People may breathe shallowly at night, leading to headaches, poor sleep, and morning tiredness. Later, daytime breathing can also be affected. Regular lung function tests and sleep studies help detect problems early, and non-invasive ventilation can support breathing when needed. [89]

6. Can pregnancy be safe for someone with this condition?
Some people with milder forms can have successful pregnancies, but there are extra risks, especially if breathing or heart function is reduced or if mobility is limited. Pregnancy should be planned with neuromuscular, obstetric, and anesthesia specialists. They will closely monitor breathing, nutrition, and delivery plans to keep parent and baby as safe as possible. [90]

7. Will brothers or sisters also have the disease?
This depends on the specific genetic change and whether it is dominant or recessive. In some families, each child has a one-in-four chance, while in others, the risk is different. Genetic testing and counselling are the best way to understand family risk and options such as carrier testing or prenatal diagnosis. [91]

8. How often should breathing be checked?
Most experts recommend at least yearly breathing tests and sometimes sleep studies, starting in childhood, even if the person feels well. If there are signs like snoring, disturbed sleep, or frequent chest infections, tests may be needed more often. Regular monitoring makes it possible to start non-invasive ventilation at the right time, not too late. [92]

9. Are there special risks during surgery or anesthesia?
Yes. Weak breathing muscles, possible heart involvement, and contractures can make anesthesia more difficult. People with collagen VI-related muscle disorder should always have surgery in centres familiar with neuromuscular diseases, and the anesthetist must see them in advance. Careful planning reduces risks of breathing problems after surgery and other complications. [93]

10. Can exercise make the disease worse?
Moderate, supervised exercise is usually helpful, while extreme exertion and lifting very heavy weights can cause muscle damage and extra fatigue. The safest plan includes gentle stretching, low-impact aerobic activity, and light strengthening that stops well before exhaustion. Physiotherapists who know neuromuscular conditions can design a personalised program. [94]

11. What is the life expectancy?
Life expectancy varies. Some people with mild Bethlem myopathy may live a near-normal lifespan, while others with severe Ullrich congenital muscular dystrophy may develop serious breathing problems earlier in life. Advances in respiratory support and multidisciplinary care have improved survival. The best guide is the individual’s pattern of weakness, breathing function, and access to specialised care. [95]

12. How common is collagen VI-related muscle disorder?
These conditions are rare. Exact numbers differ by country, but they are considered orphan diseases. Many doctors see very few cases in their career, which is why referral to specialist neuromuscular centres is important for accurate diagnosis and management. [96]

13. Is it the same as Duchenne muscular dystrophy?
No. Duchenne muscular dystrophy is caused by lack of dystrophin, a different muscle protein, and often has a faster and more severe course, especially in boys. Collagen VI-related dystrophies involve the extracellular matrix and have their own pattern of weakness, joint changes, and breathing involvement. Some treatments and monitoring strategies overlap, but the genetic cause and details are different. [97]

14. Can everyday infections be dangerous?
Minor colds are common, but if breathing muscles are weak, even a simple infection can sometimes lead to serious chest problems. That is why early treatment, vaccinations, and good airway clearance are so important. Families should have a clear action plan from their respiratory team for what to do when illness starts. [98]

15. Where can families find reliable information and support?
National muscular dystrophy associations, rare disease organizations, and specialised clinics provide good, up-to-date information. Examples include patient groups focused on collagen VI-related dystrophies and general neuromuscular charities. These organisations share educational materials, research updates, and peer support networks, helping families feel informed and less alone. [99]

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: February 09, 2025.