Congenital Muscular Dystrophy Producing Arthrogryposis

Congenital muscular dystrophy producing arthrogryposis describes babies born with a primary muscle disease (congenital muscular dystrophy, CMD) who also have multiple stiff joints (arthrogryposis). Arthrogryposis happens when a baby moves too little before birth, so joints get stuck in a bent or straight position by tight muscles, tendons, and capsules. In CMD, the muscle itself is weak or structurally abnormal from birth because of a genetic change. When CMD and arthrogryposis occur together, children can have early muscle weakness, contractures (stiff joints), spine problems, and sometimes breathing or feeding difficulties. This is not one single disease—it’s a pattern that can be caused by many different genes. Treatment focuses on early rehab, protecting the lungs, the heart and the spine, nutrition, and selective orthopedic procedures to improve function and comfort. PMC+3PMC+3PMC+3

Congenital muscular dystrophy (CMD) producing arthrogryposis is a group of rare genetic muscle disorders. “Congenital” means the problem starts before birth. “Muscular dystrophy” means muscles are weak and break down over time. “Arthrogryposis” means a baby is born with stiff joints that cannot move normally because the joints are stuck in a bent or straight position. Many body areas can be affected at the same time. These joint contractures form when the baby’s movements inside the womb are too small for a long time. Less movement leads to tight joints and shorter tendons. CMD is one important cause of this low movement. Other body systems, like the brain, breathing muscles, and heart, may also be involved depending on the exact gene. [1–3]

Congenital muscular dystrophy with arthrogryposis is an umbrella term for inherited muscle diseases that start at or soon after birth and cause weak muscles, reduced movement, and stiff, fixed joints from birth (contractures in at least two body areas). In pregnancy, babies with CMD often move less than usual; that reduced movement leads to joints developing in a stiff position (arthrogryposis). After birth, children typically show low muscle tone (floppiness), delayed milestones, and progressive orthopedic and breathing problems. The exact picture varies by gene—for example, LAMA2-related CMD and collagen VI–related dystrophies (including Ullrich CMD) are well-described forms that can include early contractures. Importantly, arthrogryposis reflects fetal akinesia (too little movement) that can stem from muscle, nerve, brain, or connective-tissue causes; in CMD, the primary problem is in muscle/connective tissue. ERN ITHACA+3PMC+3NCBI+3

Arthrogryposis is a description of multiple joint contractures present at birth and is often caused by disorders that reduce fetal movement; CMD is a recognized neuromuscular cause. PMC+2rarediseases.info.nih.gov+2

Another names

• Arthrogryposis multiplex congenita due to congenital muscular dystrophy

• CMD with arthrogryposis

• Merosin-deficient CMD with arthrogryposis (LAMA2-related)

• Dystroglycanopathy with arthrogryposis (FKTN, FKRP, POMT1/2, POMGNT genes)

• Collagen VI-related CMD (Ullrich congenital muscular dystrophy) with contractures

• “Multiple congenital contractures” due to neuromuscular disease
  These terms reflect different gene defects within the CMD family that can present with joint contractures at birth. [2,4]

Evidence note: CMDs are clinically and genetically diverse; multiple subtypes (e.g., LAMA2, collagen VI, dystroglycanopathies) can feature early contractures/arthrogryposis. PMC+1

Types

Doctors sort CMD with arthrogryposis in two ways:

1. By gene/protein

• LAMA2-related CMD (merosin-deficient): severe muscle weakness at birth or infancy, high CK, white-matter brain changes, frequent contractures; arthrogryposis can be present. [5]

• Collagen VI-related CMD (Ullrich type): marked joint laxity in some joints but tightness/contractures in others; early weakness; rigid spine may develop.

• Dystroglycanopathies (e.g., FKTN, FKRP, POMT1/2, POMGNT1/2): involve the glycosylation of alpha-dystroglycan; may include brain/eye malformations in severe forms; arthrogryposis is common in severe neonatal forms.

• SEPN1 (SELENON)-related myopathy: axial weakness, rigid spine; congenital contractures may occur.
  These are examples, not a full list. Genes vary across families and populations. [2,4,5]

2. By main clinical picture

• Severe neonatal type: very early weakness, breathing and feeding problems, multiple joint contractures at birth.

• Infant-onset type: weakness and contractures appear in the first year; may learn to sit, sometimes stand, but often lose skills later.

• CMD with brain/eye involvement: more complex disabilities if the brain or eyes are involved (typical in some dystroglycanopathies).

Evidence note: Gene-based CMD frameworks (LAMA2, collagen VI, dystroglycanopathy, etc.) and their clinical features are well described in recent reviews and GeneReviews. Wiley Online Library+2PMC+2

Causes

These are causes or contributing mechanisms that can lead to CMD with arthrogryposis. Many are genetic, and several overlap or interact:

1. LAMA2 gene variants (merosin deficiency): reduce stability of the muscle cell’s outer support, causing muscle weakness before birth and less fetal movement, leading to fixed joints. [5]

2. Collagen VI gene variants (COL6A1/A2/A3): harm the connective tissue “scaffold” around muscle fibers; some joints become tight while others are loose, promoting early contractures.

3. Dystroglycan glycosylation defects (e.g., FKTN, FKRP, POMT1/2, POMGNT1/2): impair the link between muscle cells and their outside support; severe prenatal weakness reduces movement and causes contractures.

4. SEPN1 (SELENON) variants: disturb redox homeostasis in muscle; axial weakness and reduced movement can cause contractures.

5. LMNA variants (less common CMD phenotypes): alter the nuclear envelope protein lamin A/C, weakening muscle maintenance from early life.

6. Integrin-related pathway defects (e.g., ITGA7): damage muscle–matrix binding, giving early hypotonia and less movement.

7. ECM (extracellular matrix) pathway defects beyond collagen VI and laminins: reduce muscle fiber support and elasticity.

8. Sarcolemmal complex defects: problems in the dystrophin-associated protein complex reduce membrane stability and lead to early weakness and contractures.

9. Abnormal muscle fiber repair pathways: poor repair increases fibrosis and shortening of muscles around joints.

10. Fetal hypokinesia sequence in CMD: whichever gene is involved, weak muscles move less in the womb; muscles and tendons shorten, creating contractures. [1,3]

11. Brain malformations in dystroglycanopathies: reduced central motor drive may further reduce fetal movement, worsening contractures.

12. Peripheral nerve involvement in some CMD forms: if nerves to muscle are affected, fetal movement falls.

13. Respiratory muscle weakness in utero: overall lethargy and less movement can occur.

14. Rigid spine development (in SEPN1 or collagen VI): early axial stiffness promotes limb contractures.

15. Intrauterine positioning plus weak muscles: prolonged fixed positions lead to tight joints.

16. Fibrosis and fat replacement of muscle: stiffer muscles cannot extend, so joints lose range.

17. Shortened tendons from chronic under-stretch: tendons adapt to the shortened position.

18. Connective tissue overgrowth around joints: tight joint capsules make extension difficult.

19. Secondary bone shaping (remodeling) in the fetus: bones adapt to the fixed posture, locking in the contracture.

20. Multisystem stress (feeding/breathing issues) reduces overall activity and delays stretching moments, reinforcing contractures.

Evidence note: Arthrogryposis often reflects decreased fetal movement from neuromuscular causes; CMD subtypes above are established neuromuscular causes leading to congenital contractures. PMC+2rarediseases.info.nih.gov+2

Symptoms and signs

1. Stiff joints at birth: one or more joints are fixed in a bent or straight position. It may affect shoulders, elbows, wrists, hips, knees, or feet.

2. Limited range of motion: joints do not move easily. Stretching is hard and sometimes painful.

3. Early muscle weakness: the baby may feel “floppy” (low tone) or weak. Lifting the head is hard.

4. Feeding problems: weak mouth and swallowing muscles can cause choking, poor feeding, or slow weight gain.

5. Breathing problems: weak chest muscles can lead to shallow breathing or repeated lung infections.

6. Foot deformities: clubfoot or other foot positions are common in arthrogryposis.

7. Hip dislocation or tight hips: hips may be out of place or very tight from birth.

8. Spine stiffness or curvature: a rigid spine or scoliosis can develop over time.

9. Contractures that worsen with growth: as the child grows, tight muscles and tendons may pull joints more.

10. Delayed motor milestones: sitting, crawling, or walking may be delayed or may not be reached, depending on severity.

11. Fatigue: weak muscles tire easily, especially during feeding or play.

12. Joint pain from stiffness: tight joints can ache, especially with movement or after activity.

13. Breath-holding or cyanosis with feeding: due to weak coordination of breathing and swallowing.

14. Speech delay or soft voice: if bulbar and respiratory muscles are weak.

15. Learning or vision issues in some subtypes: especially in dystroglycanopathies with brain/eye involvement; many children with other forms have normal intelligence.

Evidence note: Clinical features of AMC include multiple joint contractures and may co-occur with CMD symptoms such as hypotonia, respiratory and feeding difficulties, and spinal deformities, varying by subtype. Merck Manuals+1

Diagnostic tests

Doctors use a step-by-step plan. The goal is to confirm a neuromuscular cause, define the CMD subtype, and assess complications. Testing spans five groups.

A) Physical examination (bedside)

1. Global joint exam: The doctor gently moves each joint to feel how stiff it is. They check hips, knees, ankles, shoulders, elbows, and wrists. They look for symmetry and any dislocations. This maps out the contracture pattern typical for arthrogryposis. [1]

2. Muscle tone and strength check: The doctor looks for low tone (floppiness) or weakness. Babies with CMD often have reduced strength from birth. Tone patterns can hint at specific CMD types.

3. Spine assessment: The doctor looks for a rigid or curved spine. Rigid spine is a clue for some CMD forms (e.g., SEPN1, collagen VI). Observing posture and flexibility helps to distinguish types.

4. Respiratory evaluation: The doctor watches the chest move, counts breaths, and listens to lung sounds. Weak breathing muscles or chest wall stiffness are important in CMD.

5. Feeding and bulbar function: Observation of suck, swallow, and coordination with breathing. Difficulty suggests bulbar weakness and risk of aspiration.

Evidence note: AMC diagnosis begins clinically; patterns of contractures and associated neuromuscular signs guide targeted testing. PMC+1

B) Manual/functional tests

6. Range-of-motion (ROM) measurements: A goniometer measures how far each joint can bend or straighten. These numbers help plan therapy and track progress.

7. Developmental motor testing: Simple tasks (head control, rolling, sitting balance) show how weakness and contractures affect movement. Therapists use standardized scales for infants and children.

8. Gowers’ maneuver observation (in older toddlers/children): Watching a child rise from the floor can show hip and thigh weakness common in muscular dystrophy.

9. Respiratory function screening: Age-appropriate tests (e.g., measuring breathing depth or cough effectiveness) help detect early breathing muscle weakness, even if the child does not complain.

C) Laboratory and pathological tests

10. Serum creatine kinase (CK): CK is a muscle enzyme that leaks into blood when muscles are damaged. Many CMD forms have elevated CK, especially LAMA2-related CMD, but levels vary by subtype. [2,5]

11. Comprehensive genetic testing: A next-generation sequencing panel for CMD/myopathy genes, or whole-exome/genome testing, looks for disease-causing variants. This is the best way to find the exact subtype (e.g., LAMA2, COL6A1-3, FKRP, FKTN, POMT1/2, POMGNT1/2, SELENON, etc.). Testing both parents helps interpret results.

12. Chromosomal microarray (when needed): If the picture is unclear or multiple anomalies exist, this may find larger deletions/duplications not seen on single-gene tests.

13. Muscle biopsy (selected cases): A tiny piece of muscle is studied under the microscope and with special stains (immunohistochemistry) to check proteins like laminin-211 (merosin), collagen VI, and alpha-dystroglycan. This can confirm protein deficiency consistent with genetic results.

14. Metabolic and infection screens (if indicated): Basic metabolic panels, lactic acid, carnitine profile, and infection markers help exclude other rare causes of fetal hypokinesia that can mimic CMD.

15. Newborn screening review (where available): Some regions screen for neuromuscular conditions; results and dried blood spots may aid diagnosis.

Evidence note: Workup of congenital neuromuscular disorders combines CK testing, genetic panels, and sometimes muscle biopsy to define CMD subtype. PMC+1

D) Electrodiagnostic tests

16. Nerve conduction studies (NCS): These tests measure how fast and how strong signals travel in nerves. In primary muscle disease, sensory responses are usually normal. This helps rule out nerve disorders that could also cause reduced fetal movement and contractures. [6,7]

17. Needle electromyography (EMG): EMG looks at electrical activity inside muscles. Myopathic patterns (short-duration, low-amplitude motor unit potentials with early recruitment) support a muscle disorder. EMG also rules out motor neuron disease or neuromuscular junction disorders in uncertain cases. [6,8]

18. Repetitive nerve stimulation (when needed): This checks for neuromuscular junction problems (like myasthenic syndromes) if symptoms suggest fatigable weakness. It is not routine in clear CMD but is helpful when the picture is mixed.

Evidence note: Electrodiagnostic testing (NCS/EMG) is valuable to confirm myopathy and exclude mimics; AANEM guidance and peer-reviewed summaries support its role. NCBI+2AANEM+2

E) Imaging tests

19. Prenatal ultrasound: In pregnancy, doctors may see little fetal movement, abnormal limb positions, clubfoot, or fixed joints. Ultrasound can suggest arthrogryposis before birth and prompt genetic counseling. [1,3]

20. Fetal MRI (selected cases): If brain or spine problems are suspected, fetal MRI helps look for brain malformations seen in severe dystroglycanopathies. This helps planning and family counseling. [2]

Postnatal imaging (after birth):

21. Muscle MRI: Pictures of muscles can show a “pattern” of which muscles are more affected. Different CMD subtypes have different patterns (for example, characteristic involvement in collagen VI or LAMA2). This pattern can guide the gene test and sometimes avoid a biopsy. [2]

22. Brain MRI: Used when a CMD subtype may affect the brain (e.g., dystroglycanopathies). It can show white-matter changes (common in LAMA2) or cortical malformations in some dystroglycanopathies. [5]

23. Skeletal X-rays: X-rays of hips, knees, feet, and spine show dislocations, clubfoot deformities, and scoliosis. This helps plan orthopedics and therapy.

24. Echocardiogram (heart ultrasound): Some muscle disorders affect the heart. Screening looks for heart function issues that need treatment.

25. Swallow study (videofluoroscopy): If feeding or choking is a problem, this study shows if liquid enters the airway. It guides safe feeding methods and therapy.

Evidence note: Prenatal detection of reduced movement and joint contractures (AMC) is common; postnatal muscle MRI and brain MRI help distinguish CMD subtypes and associated CNS findings. rarediseases.info.nih.gov+2PMC+2

Non-pharmacological treatments (therapies & others)

Evidence quality varies and is often extrapolated from broader neuromuscular care. AACPDM care pathways and neuromuscular reviews emphasize early, proactive, multidisciplinary support. AACPDM+1

1. Parent-guided daily stretching: Gentle, frequent stretches maintain joint range and reduce progression of contractures; therapists teach safe techniques; over-stretching is avoided. Purpose: preserve function, delay surgery. Mechanism: counters soft-tissue tightening from immobility. AACPDM

2. Positioning & splinting (night splints, serial casts): Neutral positioning with splints or periodic casting gradually lengthens muscle–tendon units. Purpose: improve range for caregiving, standing, footwear. Mechanism: low-load prolonged stretch remodels collagen. AACPDM

3. Physiotherapy (goal-directed): Task-focused PT builds motor skills within the child’s strength envelope; includes supported sitting, transfers, and safe mobility. Mechanism: motor learning and prevention of disuse. AACPDM

4. Occupational therapy & hand therapy: Adaptive hand positioning, splints, and activity modification promote self-care and play despite elbow/wrist contractures. Mechanism: optimize kinematics and energy. AACPDM

5. Hydrotherapy (aquatic therapy): Buoyancy reduces antigravity burden, enabling range work and gentle strengthening with less fatigue. Mechanism: graded resistance and pain modulation in warm water. AACPDM

6. Orthoses (AFOs, KAFOs, spinal braces): Maintain foot alignment, assist standing, and slow scoliosis progression in selected cases. Mechanism: external support to compensate for weak stabilizers. AACPDM

7. Standing program & supported weight-bearing: Standing frames promote hip/spine alignment, bone health, and digestion. Mechanism: mechanical loading improves bone accrual and posture. AACPDM

8. Early hip/foot deformity management (e.g., Ponseti casting for clubfoot): Corrects deformity before secondary bony changes. Mechanism: serial gentle repositioning in infancy. PMC

9. Respiratory physiotherapy & cough-assist: Airway clearance, breath stacking, and mechanical insufflation-exsufflation reduce atelectasis/infections. Mechanism: improves cough flows and ventilation. PMC

10. Noninvasive ventilation (NIV) at night (when indicated): Treats sleep hypoventilation and improves energy/alertness. Mechanism: unloads weak respiratory muscles. PMC

11. Swallow therapy & safe feeding strategies: Pacing, texture modification, and posture reduce aspiration risk; may prevent failure to thrive. Mechanism: compensatory techniques for bulbar weakness. AACPDM

12. Nutritional optimization (dietitian-led): Adequate calories/protein/micronutrients support growth and immune function; consider gastrostomy when oral intake is unsafe/inadequate. Mechanism: prevents malnutrition and supports healing. PMC

13. Speech-language therapy (communication): Augmentative/alternative communication (AAC) supports participation if speech is weak. Mechanism: reduces cognitive load and frustration. AACPDM

14. Education planning & school accommodations: Seating, access, rest breaks, and assistive tech maintain participation. Mechanism: environmental modification. AACPDM

15. Pain management without drugs (heat, gentle massage, pacing): Reduces contracture-related discomfort. Mechanism: local circulation and central modulation. AACPDM

16. Psychosocial and peer support: Family-centered care reduces stress and improves adherence to home programs. Mechanism: coping and resilience. AACPDM

17. Skin care & pressure injury prevention: Cushions, frequent repositioning, and moisture control protect fragile skin (notably in COL6-RD). Mechanism: reduces shear/pressure. NCBI

18. Bone health measures: Standing, safe sunlight, and diet optimize bone density; monitor for fractures in non-ambulant children. Mechanism: load-dependent bone remodeling. AACPDM

19. Genetic counseling: Explains inheritance, recurrence risk, and testing options for relatives; informs reproductive planning. Mechanism: informed decision-making. PMC

20. Coordinated multidisciplinary clinic (“medical home”): Integrates neuromuscular, pulmonary, nutrition, rehab, orthopedic, and social care; improves outcomes and reduces fragmentation. Mechanism: streamlined, anticipatory care. AAP Publications

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Drug treatments

No widely approved disease-modifying drugs exist for CMD subtypes discussed here. Medication use is individualized, targeting spasticity (if present), pain, seizures, reflux/constipation, sleep-disordered breathing (with NIV as first-line), and infection prevention. Always tailor to the child’s phenotype and monitor side effects. PMC

Below are representative options commonly considered; numbers are for organization (not a “must use” list). Doses are examples for context only—clinicians adjust for age/weight/comorbidity.

1. Levetiracetam (antiepileptic): Helps control seizures in CMD forms with epilepsy (e.g., some LAMA2). Typical pediatric starting dose ~10 mg/kg twice daily, titrated. Purpose: seizure control. Mechanism: modulates synaptic vesicle protein SV2A. Side effects: irritability, somnolence. NCBI

2. Valproate (antiepileptic): Broad-spectrum option when seizures are difficult. Dose individualized; monitor liver function and platelets. Mechanism: GABAergic augmentation. Caution: teratogenic; weight gain. NCBI

3. Baclofen (oral antispasticity): If abnormal tone/spasticity coexists (less typical in pure CMD but possible), start low (e.g., 0.5–1 mg/kg/day divided). Mechanism: GABA-B agonist reducing reflex hyperexcitability. Side effects: sedation, hypotonia. AACPDM

4. Tizanidine (antispasticity): α2-agonist alternative when baclofen not tolerated; monitor liver enzymes. Side effects: drowsiness, hypotension. AACPDM

5. Botulinum toxin A (focal contracture spasticity): Targeted injections can ease focal over-activity around a joint to facilitate casting/splinting in selected children (case-by-case). Mechanism: blocks acetylcholine release. Risks: local weakness; avoid over-weakening already weak muscles. AACPDM

6. Analgesics (acetaminophen/ibuprofen): For pain from stretching, orthoses, or intercurrent illness. Use weight-based dosing; ibuprofen with food and renal caution. Mechanism: central analgesia/COX inhibition. AAP Publications

7. Proton-pump inhibitor (e.g., omeprazole): For significant reflux affecting nutrition or airway safety; dose per pediatric guidance. Mechanism: suppresses gastric acid. Risks: micronutrient malabsorption with long-term use. AAP Publications

8. Laxatives (polyethylene glycol): Prevents constipation from low mobility and meds; titrate to daily soft stool. Mechanism: osmotic water retention in stool. AAP Publications

9. Antibiotics per guidelines (e.g., for bacterial chest infections): use judiciously; emphasize airway clearance and vaccinations to prevent infections. Mechanism: pathogen-specific. PMC

10. Inhaled bronchodilators (if coexisting reactive airway disease): symptom relief; not specific to muscle weakness. Mechanism: β2-agonism. PMC

11. Melatonin for sleep onset problems (after sleep-disordered breathing is addressed). Mechanism: circadian entrainment; pediatric dosing individualized. AAP Publications

12. Vitamin D + calcium if dietary intake is low or bone health is a concern; dosing per labs/age. Mechanism: supports bone mineralization. AAP Publications

Because evidence specific to CMD is sparse, and many additional drugs would duplicate categories or risk suggesting off-label treatments without strong support. The safest approach is a personalized medication plan built around the child’s gene, symptoms, and test results. PMC

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Dietary molecular supplements

1. Energy-adequate diet (with protein ~1–1.5 g/kg/day depending on age/needs): Prevents catabolism and supports healing. Supplement oral calories if needed. PMC

2. Vitamin D: Target sufficiency per labs to protect bone while mobility is limited. AAP Publications

3. Calcium: Meet age-appropriate intake; prefer food first; supplement if dietary intake is low. AAP Publications

4. Iron (if deficient): Treats anemia that can worsen fatigue and exercise intolerance. Test before supplementing. AAP Publications

5. Omega-3 fatty acids: May aid general cardiometabolic health and inflammation; evidence in CMD is indirect. AAP Publications

6. Multivitamin/minerals: Backstop for selective eaters; avoid megadoses. AAP Publications

7. Fiber supplementation (as tolerated): Supports bowel regularity when mobility is low. AAP Publications

8. Probiotics (select cases): May help antibiotic-associated diarrhea; choose products with pediatric data. AAP Publications

9. Protein supplements (whey/casein/peptide formulas): Useful if chewing/swallow fatigue limits intake; dietitian to guide. PMC

10. Hydration strategies (oral rehydration, water-rich foods): Support mucus clearance and bowel health. PMC

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Immunity-booster / regenerative / stem-cell” drugs

• There are no proven regenerative or stem-cell drugs approved for CMD subtypes addressed here. Research is ongoing in gene-targeted therapies, but clinical use remains experimental. Families should avoid unregulated “stem-cell” clinics. Below are accurate status statements rather than endorsements. PMC

1. Gene therapy concepts (e.g., LAMA2 replacement, mini-agrin strategies): Preclinical/early research; not clinically available. Function: restore ECM–sarcolemma linkage. Mechanism: add/modify gene product. PMC

2. Exon skipping / RNA therapies: Successful in some dystrophies (e.g., DMD), but no approved CMD exon-skipping to date. Function: modify transcript to produce functional protein. PMC

3. CRISPR/Cas gene editing: Laboratory stage for CMD; ethical and safety questions remain. Function: correct pathogenic variants. PMC

4. Cell-based therapies (myoblast/MSC): Experimental; no robust, durable functional gains proven in CMD; risks include immune reactions. Function: tissue support/regeneration. PMC

5. Read-through agents (for nonsense variants): Conceptual interest but no established CMD indication. Function: allow ribosome to bypass premature stop codon. PMC

6. Anabolic/anti-fibrotic drug candidates: Investigational; presently supportive care remains standard. Function: reduce fibrosis/improve muscle quality. PMC

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Surgeries

1. Soft-tissue releases (e.g., Achilles, hamstrings, elbows): Loosen tight tendons to improve joint position/function when casting and therapy are insufficient. Why: enable bracing, sitting, hygiene, and footwear. PMC

2. Clubfoot correction (Ponseti + limited surgery as needed): Early correction gives plantigrade feet for bracing/standing. Why: foundational for mobility and skin integrity. PMC

3. Hip surgery (reduction/dysplasia procedures): Stabilizes hips to reduce pain and improve sitting/standing tolerance. Why: prevent progressive deformity. PMC

4. Spinal instrumentation for scoliosis (select cases): Improves sitting balance and may help breathing mechanics in progressive curves. Why: posture, comfort, care. PMC

5. Gastrostomy tube (PEG) placement: Provides safe, reliable nutrition/hydration when swallowing is unsafe or insufficient. Why: growth, aspiration prevention, medication delivery. PMC

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Preventions

1. Vaccinations (child and household): Reduce respiratory infection risk. PMC

2. Daily airway clearance during illnesses: Early use of cough-assist and chest techniques. PMC

3. Night-time ventilation when indicated: Prevents sleep hypoventilation sequelae. PMC

4. Contracture prevention routines: Consistent stretching/splinting. AACPDM

5. Safe mobility & seating: Proper seating and pressure care to avoid sores. AACPDM

6. Nutrition plans: Adequate protein/calories; manage reflux/constipation. PMC

7. Bone health: Standing program; vitamin D/calcium sufficiency. AAP Publications

8. Early orthopedic review: Catch feet/hip/spine issues before they worsen. PMC

9. Infection-control habits: Hand hygiene; prompt care for cough/fever. PMC

10. Care coordination: Regular reviews in a multidisciplinary clinic. AAP Publications

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When to see doctors

• Breathing red flags: snoring, pauses, morning headaches, daytime sleepiness, frequent chest infections. Seek pulmonary/sleep evaluation promptly. PMC

• Feeding/growth concerns: choking/coughing during feeds, weight loss/poor gain; see SLP/dietitian/ GI. PMC

• New or worsening contractures, pain, or scoliosis: orthopedic and rehab review. PMC

• Seizures or regression: urgent neurology input. NCBI

• Routine: periodic visits with neuromuscular, rehab, pulmonary, nutrition, and orthopedic teams to anticipate and prevent complications. AAP Publications

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What to eat and what to avoid

• Eat: balanced meals with adequate protein (pulses, eggs, dairy, fish/poultry if used) to support muscle repair and immune function. Avoid: chronic low-protein intake. PMC

• Eat: fruits/vegetables + fiber for bowel regularity. Avoid: very low-fiber diets that worsen constipation. AAP Publications

• Eat: calcium and vitamin D sources; supplement if labs/age indicate. Avoid: long-term deficiency. AAP Publications

• Eat: adequate calories—use energy-dense foods or supplements if fatigue limits intake. Avoid: prolonged under-nutrition. PMC

• Eat: small, frequent, safe-texture meals if chewing/swallowing is tiring. Avoid: unsafe textures that increase aspiration risk. AACPDM

• Hydrate: regular fluids to help mucus clearance and bowel function. Avoid: dehydration. PMC

• Consider: omega-3-rich foods for general health. Avoid: unproven “muscle cures” or high-dose supplements without medical advice. AAP Publications

• For reflux: avoid late heavy meals/trigger foods; elevate head during/after feeds as advised. AAP Publications

• Bone health: include dairy/fortified alternatives; pair calcium with vitamin D sources. AAP Publications

• Work with a dietitian to tailor plans; needs change with growth, illness, and mobility. PMC

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FAQs

1) Is arthrogryposis a disease?
No. It describes multiple joint contractures at birth. In CMD, it results from too little fetal movement due to a primary muscle/connective-tissue problem. A gene diagnosis clarifies expectations and care. PMC

2) How is CMD with arthrogryposis diagnosed today?
By clinical exam + genetic testing (often a neuromuscular gene panel/exome). Muscle/skin studies are used when genetics is inconclusive. PMC

3) Can this get better?
Contractures can improve functionally with therapy, splints/casts, and selected surgeries, but the underlying muscle disorder persists. Early, consistent care matters. AACPDM

4) Is brain involved?
In LAMA2 and dystroglycanopathies, white-matter changes and seizures may occur; collagen VI usually spares cognition. Your gene result guides surveillance. NCBI+1

5) Will my child walk?
Outcomes vary by subtype and severity. Some children with milder forms (e.g., Bethlem) walk; severe forms may rely on wheelchairs but can achieve excellent participation with support. NCBI

6) What about breathing at night?
Weak respiratory muscles can cause sleep hypoventilation; a sleep study and NIV can improve energy and prevent complications. PMC

7) Are there cures or proven stem-cell treatments?
No approved cures yet. Gene-targeted approaches are under study; beware unregulated clinics. Standard care focuses on prevention and function. PMC

8) Which therapies matter most?
Daily stretching/positioning, orthoses, standing, respiratory care, nutrition, and coordinated multidisciplinary follow-up. AACPDM

9) Do seizures change the plan?
Yes—prompt neurology care and appropriate antiepileptic choices; therapies continue with safety adjustments. NCBI

10) How often should we see specialists?
Regularly (frequency depends on age/severity): neuromuscular, rehab, pulmonary/sleep, orthopedics, nutrition, and therapies—ideally in a coordinated clinic. AAP Publications

11) Are vaccines safe?
Yes—recommended to lower infection risks; discuss specific questions with your team. PMC

12) What if feeding is unsafe?
Speech/OT can modify textures and techniques; gastrostomy may provide safe nutrition if needed. PMC

13) Why do some joints feel loose while others are tight?
In collagen VI disorders, proximal contractures and distal hyperlaxity often coexist due to ECM abnormalities. Orpha

14) Can contractures come back after surgery?
Yes—without ongoing stretching/splinting and therapy, tissues can tighten again. Surgery complements, not replaces, therapy. AACPDM

15) What’s the single most important step right now?
Build an early, proactive home program (stretching/positioning + respiratory hygiene), and link with a multidisciplinary clinic to anticipate needs. AACPDM+1

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: September 23, 2025.

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