Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U (LGMD2U)

Autosomal recessive limb-girdle muscular dystrophy type 2U (LGMD2U) is a rare, inherited muscle disease. It mainly weakens the big muscles around the hips, thighs, shoulders and upper arms—the “limb girdle” muscles. The weakness often starts in childhood and slowly gets worse over time. Many people have trouble getting up from the floor or a low chair, climbing stairs, running, or lifting their arms above the head. A doctor may see a Gowers’ sign (using the hands to push on the thighs to stand up). Blood tests usually show high creatine kinase (CK), which means the muscles are leaking enzymes due to muscle fiber damage. Some people develop tight tendons (contractures), especially at the ankles, and enlarged calf muscles. Reflexes can be reduced. The condition is caused by changes (mutations) in a single gene and is passed down in an autosomal recessive way, which means a person gets one non-working copy from each parent. Rare Diseases Information Center+1

LGMD2U is a rare, inherited muscle disease. It happens when both copies of a gene called CRPPA (previously named ISPD) do not work properly. This gene helps add sugar chains to a muscle protein called α-dystroglycan. When this sugar coat is missing (called hypoglycosylation), muscles slowly become weak, especially around the hips and shoulders. Children usually show a “Gowers’ sign” (they use hands to push up from the floor), have high blood creatine kinase, and can get calf or tongue muscle enlargement and tight tendons. Some people may also have breathing, eye, or heart problems. NCBI

Scientifically, LGMD2U belongs to the dystroglycanopathy group—conditions where the sugar chains on a muscle protein called α-dystroglycan are not made correctly. When these sugar chains are incomplete, muscle cells attach less firmly to their support structure and become fragile with use. This poor “glue” leads to ongoing muscle damage, weakness, and high CK levels. PMC+1

Other names

Because medical names have been updated, LGMD2U appears under several labels:

• LGMD2U (older name)

• CRPPA/ISPD-related LGMD (current gene name is CRPPA, previously ISPD)

• LGMDR20 (newer LGMD naming: “LGMD Recessive 20”)

• Muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 (MDDGC7)
  All of these refer to the same core disease mechanism: reduced glycosylation of α-dystroglycan caused by pathogenic variants in CRPPA/ISPD. NCBI+3panelapp.genomicsengland.co.uk+3informatics.jax.org+3

Types

Doctors do not divide LGMD2U into rigid “types” the way they do for some other conditions. Instead, they describe a spectrum based on age of onset and severity:

1. Childhood-onset limb-girdle form – the most typical presentation: hip and shoulder weakness in school years or teens, with positive Gowers’ sign, high CK, and slow progression. Rare Diseases Information Center

2. Congenital/early-childhood form – rarer, with earlier weakness and sometimes extra features such as learning difficulties, eye problems (like severe near-sightedness or cataract), or coordination issues. These reflect the wider “dystroglycanopathy” biology. Rare Diseases Information Center+1

3. Complex/multisystem form – less common; some patients show cerebellar signs, movement problems, or additional brain MRI changes, again linking to the same glycosylation pathway. PubMed

Causes

For a single-gene disease like LGMD2U, “causes” means genetic and biological reasons that lead to the muscle problem, plus factors that influence expression. Here are 20 plainly explained “causes” and contributors:

1. CRPPA (ISPD) gene mutations – the direct, root cause. Two non-working copies impair the enzyme needed to build ribitol-phosphate chains for α-dystroglycan. NCBI

2. Autosomal recessive inheritance – you must inherit one faulty gene from each parent; carriers (one faulty copy) are healthy. MedlinePlus

3. Faulty α-dystroglycan glycosylation – without proper sugar chains, muscle fibers lose stable attachment and are easily damaged. PMC

4. Loss of ribitol-phosphate addition – CRPPA is crucial in the ribitol pathway that builds part of α-dystroglycan’s sugar tree. When this is missing, α-dystroglycan cannot function correctly. NCBI

5. Founder variants in certain populations – some communities share a common ancestral mutation, increasing local frequency. PMC

6. Consanguinity (parents related by blood) – raises the chance a child receives the same rare variant from both parents. (Observed across many recessive neuromuscular disorders.) ScienceDirect

7. Severe (“null”) variants – changes that completely stop protein function usually cause earlier or more severe disease. (General genotype–phenotype principle in LGMDs.) PMC

8. Missense variants with partial activity – may lead to later onset or milder weakness because a little enzyme activity remains. (General LGMD genetics principle.) PMC

9. Pathway overlap with other glycosylation steps – interacting glycosylation pathways can worsen or modify disease features. PubMed

10. Muscle use and micro-trauma – fragile muscle membranes leak enzymes (high CK) after normal activity, feeding a cycle of damage and repair. (General MD biology.) Cleveland Clinic

11. Secondary inflammation – damaged fibers can trigger local inflammation, adding fatigue and soreness. (General MD biology.) Cleveland Clinic

12. Tendon tightening (contractures) – shortened tendons alter mechanics and increase fall risk over time. Rare Diseases Information Center

13. Scoliosis or hip dysplasia in some patients – changes in posture and joint alignment can increase muscle workload. Global Genes

14. Ocular involvement in some – severe myopia or cataract adds functional challenges and signals broader glycosylation effects. Global Genes

15. CNS features (rare) – coordination problems or developmental issues may reflect the same glycosylation defect in brain tissues. PubMed

16. Delayed diagnosis – without early supportive care and stretching, stiffness and falls can accumulate. (General LGMD care principle.) Cleveland Clinic

17. Infections or deconditioning – illness or inactivity can lead to stepwise drops in functional level. (General neuromuscular principle.) Cleveland Clinic

18. Weight gain – extra body weight increases the load on already weak muscles. (General LGMD care principle.) Cleveland Clinic

19. Inappropriate high-impact exercise – repeated eccentric strain can worsen soreness or CK spikes. (General MD advice.) Cleveland Clinic

20. Lack of genetic counseling – families without counseling may have repeated cases across generations due to unrecognized carrier status. (LGMD family planning guidance.) PreventionGenetics

Symptoms

1. Trouble rising from the floor or low chairs – due to weak hip and thigh muscles; Gowers’ sign may be seen. Rare Diseases Information Center

2. Difficulty climbing stairs or running – proximal leg weakness makes these tasks slow and tiring. Rare Diseases Information Center

3. Shoulder and upper-arm weakness – lifting objects overhead becomes hard over time. Rare Diseases Information Center

4. Waddling gait – hip weakness leads to a rolling walk. Rare Diseases Information Center

5. Frequent falls – balance and power are reduced, especially on uneven ground. Rare Diseases Information Center

6. Calf enlargement (pseudohypertrophy) – calves may look big because of fat and connective tissue inside the muscle. Rare Diseases Information Center

7. Tight ankles (Achilles contractures) – limited upward foot bend; toe-walking in some. Rare Diseases Information Center

8. Reduced reflexes – knee and ankle reflexes can be diminished. Rare Diseases Information Center

9. Muscle pain or cramps after activity – a sign of fragile muscles. (General LGMD feature.) Cleveland Clinic

10. Fatigue – daily tasks take more effort; rest helps but weakness persists. Cleveland Clinic

11. Back curvature (scoliosis) in some – posture adapts to weakness. Global Genes

12. Hip problems (hip dysplasia) in some – joint shape differences add pain or instability. Global Genes

13. Vision problems in a subset – severe near-sightedness or cataract may occur. Global Genes

14. Learning or coordination difficulties in a subset – reflects broader glycosylation biology beyond muscle. PubMed

15. High CK on blood tests without symptoms (early) – sometimes the first clue before obvious weakness. (General LGMD observation.) NCBI

Diagnostic tests

A) Physical examination

1. General neuromuscular exam – the clinician watches how you stand up, walk, climb steps, and lift arms. The pattern of “proximal > distal” weakness suggests an LGMD. Rare Diseases Information Center

2. Gowers’ sign check – the doctor looks for hand-pushing on thighs when rising from the floor; this signals hip/thigh weakness. Rare Diseases Information Center

3. Range-of-motion and contracture check – ankles, knees, and hips are gently moved to see if tendons are tight; early stretching can help. Rare Diseases Information Center

4. Posture and spine assessment – screening for scoliosis or increased lumbar curve due to weak trunk muscles. Global Genes

5. Functional testing (timed tasks) – simple tests (timed sit-to-stand, 10-meter walk) show day-to-day impact and track change over time. (General LGMD care approach.) Cleveland Clinic

B) Manual tests

6. Manual muscle testing (MRC grading) – the examiner grades muscle strength from 0 to 5 using resistance; typical muscles (hip flexors/extensors, shoulder abductors) are checked. (Standard neuromuscular exam.) Medscape

7. Hand-held dynamometry – a small device measures push/pull force more precisely than hands alone, giving numbers to track. (General LGMD monitoring.) Cleveland Clinic

8. Gait analysis by observation – clinicians watch stride, base, pelvic tilt; a “waddling” pattern hints at hip abductor weakness. (Standard practice.) Cleveland Clinic

9. Contracture measurement with goniometer – a small protractor measures ankle/knee/hip angles to quantify stiffness over time. (Standard rehab tool.) Cleveland Clinic

10. Balance and fall-risk screens – simple standing tests or the Timed Up and Go help set therapy goals and safety plans. (Rehab standards for LGMD.) Cleveland Clinic

C) Laboratory & pathological tests

11. Serum creatine kinase (CK) – usually high, sometimes very high, showing active muscle fiber leakage. This is a strong early clue for a dystrophy. Rare Diseases Information Center

12. Liver enzymes (AST/ALT) – these can be elevated because they are also found in muscle; results must be interpreted in the muscle context. (General LGMD lab pattern.) Cleveland Clinic

13. Genetic testing panel for LGMD – modern panels include CRPPA (ISPD) among many LGMD genes; finding two pathogenic variants confirms the diagnosis and ends the diagnostic odyssey. PreventionGenetics

14. Targeted CRPPA (ISPD) sequencing – if the clinical picture and family history fit, a focused test can look directly for known family variants. (Clinical genetics workflow.) PreventionGenetics

15. Muscle biopsy (if genetics are inconclusive) – microscopic review shows dystrophic changes; special stains and western blots often reveal reduced glycosylated α-dystroglycan, supporting a dystroglycanopathy like CRPPA-related disease. Medscape

16. Pathology immunohistochemistry – antibodies to α-dystroglycan and other proteins (e.g., dystrophin, sarcoglycans) help exclude other MDs and point toward the glycosylation pathway. Medscape

D) Electrodiagnostic tests

17. Electromyography (EMG) – shows a “myopathic pattern” (short, small motor unit potentials) without nerve damage, which fits a primary muscle disease. (Standard EMG interpretation in LGMD.) Medscape

18. Nerve conduction studies (NCS) – usually normal or near normal because the nerves are not the main problem; this helps separate muscle disease from neuropathy. (Standard NCS finding in MD.) Medscape

E) Imaging tests

19. Muscle MRI of thighs and pelvis – reveals selective patterns of muscle involvement and fatty replacement. Doctors use these patterns to support the diagnosis and to follow progression gently, without repeated biopsies. (General LGMD imaging practice.) PMC

20. Spine/hip imaging when needed – X-rays or MRI check for scoliosis or hip dysplasia that may require bracing, therapy changes, or orthopedic input. Global Genes

Non-pharmacological treatments (therapies & others)

Note: These are the mainstays of LGMD2U care. They are personalized and progress with age and strength. Evidence and recommendations come from expert care guides and LGMD consensus papers.

1. Regular, gentle physiotherapy (PT): low-impact exercises keep joints moving and protect muscle from stiffness. Overwork is avoided; “little and often” is best. LGMD Awareness Foundation

2. Daily stretching program: hamstrings, hip flexors, and Achilles to delay contractures and help walking balance. LGMD Awareness Foundation

3. Sub-maximal aerobic activity: walking in short bouts, recumbent cycling, or supported swimming improves endurance without harming muscle. LGMD Awareness Foundation

4. Breathing (respiratory) physiotherapy: breath-stacking and assisted cough to clear mucus and keep lungs healthy. LGMD Awareness Foundation

5. Night-time ventilation assessment & NIV when indicated: sleep studies and non-invasive ventilation if nocturnal hypoventilation appears. LGMD Awareness Foundation

6. Energy-conservation training: pacing, task planning, and rest breaks to reduce fatigue in school, work, and home. LGMD Awareness Foundation

7. Occupational therapy (OT): home and classroom/work adaptations, handrails, bathroom aids, and safe transfers. LGMD Awareness Foundation

8. Orthoses and splints: ankle-foot orthoses for foot drop; night splints to maintain range. LGMD Awareness Foundation

9. Seating and posture management: wheelchair/seating evaluation to prevent scoliosis and pressure sores. LGMD Awareness Foundation

10. Fall-prevention strategies: footwear review, decluttering, lighting, and gait aids to reduce injury risk. LGMD Awareness Foundation

11. Scoliosis monitoring: regular spine checks; early bracing referral if curve progresses. LGMD Awareness Foundation

12. Contracture clinics: scheduled reviews for joints at risk (ankle, knee, hip, elbow) with timely casting or splint changes. LGMD Awareness Foundation

13. Pain management education: heat/cold packs, pacing, sleep hygiene before medicines are considered. LGMD Awareness Foundation

14. Nutrition counseling: adequate protein, vitamin D and calcium; maintain healthy weight to ease mobility and breathing. LGMD Awareness Foundation

15. Vaccination optimization: annual influenza and age-appropriate vaccines to prevent respiratory infections. LGMD Awareness Foundation

16. Psychological support: coping skills, anxiety/depression screening, and peer support for patient and family. LGMD Awareness Foundation

17. School and workplace accommodations: individualized education plans, exam time adjustments, ergonomic desks. LGMD Awareness Foundation

18. Genetic counseling: explains inheritance, testing for siblings, and family planning. LGMD Awareness Foundation+1

19. Emergency card & care plan: share baseline function, respiratory status, and safe positioning instructions. LGMD Awareness Foundation

20. Clinical trial awareness: stay connected with LGMD research registries for future gene-targeted options. NMD Journal

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Drug treatments

Important: No medicine is FDA-approved specifically for LGMD2U as of Oct 11, 2025. Drugs below are commonly used to treat symptoms or comorbidities. Indications come from the FDA labels; LGMD2U use is typically off-label. Always individualize and check interactions.

1. Acetaminophen for mild pain/fever; liver-dose limits apply. FDA label source. LGMD Awareness Foundation
   FDA: Tylenol (acetaminophen) label. LGMD Awareness Foundation

2. Ibuprofen for musculoskeletal pain; take with food; GI/renal cautions. FDA label source. LGMD Awareness Foundation

3. Naproxen for longer-acting NSAID pain control; GI bleed risk counseling. FDA label source. LGMD Awareness Foundation

4. Topical diclofenac gel for localized joint/tendon pain with lower systemic exposure. FDA label source. LGMD Awareness Foundation

5. Baclofen for bothersome muscle spasm/tone; monitor sedation/weakness. FDA label: Lioresal. LGMD Awareness Foundation

6. Tizanidine alternative antispastic agent; watch for hypotension/sedation. FDA label: Zanaflex. LGMD Awareness Foundation

7. Gabapentin for neuropathic pain/paresthesia if present; renal dose adjust. FDA label: Neurontin. LGMD Awareness Foundation

8. Pregabalin for neuropathic features and sleep; edema/dizziness counseling. FDA label: Lyrica. LGMD Awareness Foundation

9. Duloxetine SNRI for chronic musculoskeletal/neuropathic pain and mood. FDA label: Cymbalta. LGMD Awareness Foundation

10. Amitriptyline (low dose at night) for pain and sleep; anticholinergic cautions. FDA label: Elavil (historical) class labeling. LGMD Awareness Foundation

11. Meloxicam once-daily NSAID option; use gastroprotection if high risk. FDA label: Mobic. LGMD Awareness Foundation

12. Omeprazole (gastroprotection) when chronic NSAIDs are needed. FDA label: Prilosec. LGMD Awareness Foundation

13. Polyethylene glycol 3350 for constipation from immobility/meds. FDA label: MiraLAX. LGMD Awareness Foundation

14. Lisinopril ACE inhibitor if cardiomyopathy or LV dysfunction is diagnosed (cardiac forms vary by subtype). FDA label: Prinivil/Zestril. LGMD Awareness Foundation+1

15. Metoprolol beta-blocker for cardiomyopathy/arrhythmia management if present. FDA label: Toprol-XL/Lopressor. LGMD Awareness Foundation

16. Spironolactone added in heart failure with reduced EF per standard care; monitor K+. FDA label: Aldactone. LGMD Awareness Foundation

17. Furosemide loop diuretic for fluid overload with cardiac involvement; monitor electrolytes. FDA label: Lasix. LGMD Awareness Foundation

18. Salbutamol/albuterol inhaler only if coexisting reactive airway disease; helps airflow, not muscle strength. FDA label: ProAir/Ventolin. LGMD Awareness Foundation

19. Oseltamivir (seasonal) lowers risk of severe flu outcomes in vulnerable patients—best with vaccination. FDA label: Tamiflu. LGMD Awareness Foundation

20. Deflazacort: FDA-approved for DMD, not for LGMD; sometimes discussed off-label for muscle inflammation—use only under specialist advice given unclear benefit and steroid risks. FDA label: Emflaza. LGMD Awareness Foundation

(Because FDA’s site hosts the official labels, each drug’s source is the corresponding FDA label linked from accessdata.fda.gov; this paragraph notes label provenance for all items above.) LGMD Awareness Foundation

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Dietary molecular supplements

No supplement cures LGMD2U. These options are sometimes used to support general muscle and bone health. Evidence varies; avoid interactions.

1. Creatine monohydrate: may modestly improve short-term muscle performance in neuromuscular disease; typical 3–5 g/day after loading. LGMD Awareness Foundation

2. Vitamin D3: maintain sufficiency for bone health and strength; dose guided by baseline level (often 1000–2000 IU/day). LGMD Awareness Foundation

3. Calcium: meet recommended intake via diet or supplements if intake is low; separates from iron/thyroid meds. LGMD Awareness Foundation

4. Omega-3 fatty acids (EPA/DHA): anti-inflammatory support; common dose 1–2 g/day combined EPA/DHA with food. LGMD Awareness Foundation

5. Coenzyme Q10: antioxidant/mitochondrial cofactor; studied across myopathies; 100–200 mg/day. LGMD Awareness Foundation

6. L-carnitine: supports fatty-acid transport; 1–2 g/day divided; monitor for GI upset. LGMD Awareness Foundation

7. Magnesium: helps cramps and sleep in some; 200–400 mg elemental/day; watch for diarrhea. LGMD Awareness Foundation

8. Whey protein or equivalent: convenient way to hit daily protein targets (≈1.0–1.2 g/kg/day unless restricted). LGMD Awareness Foundation

9. Vitamin B12 (if low): corrects deficiency that can worsen fatigue and neuropathy; dose per level (e.g., 1000 µg oral). LGMD Awareness Foundation

10. Curcumin: anti-inflammatory properties; variable bioavailability—use standardized products; discuss anticoagulant use. LGMD Awareness Foundation

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Immunity booster / regenerative / stem cell drugs

There are no FDA-approved immune-boosting, regenerative, or stem-cell drugs for LGMD2U. Experimental approaches (like gene therapy targeting glycosylation pathways) are under study for other LGMDs, but not established for CRPPA-related LGMD as routine care. Best practice is vaccination, infection prevention, and enrollment in registries to hear about clinical trials that may emerge. NMD Journal+1

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Surgeries (when and why)

1. Achilles tendon lengthening: if fixed equinus contracture limits walking or brace fitting; aims to restore neutral ankle and safer gait. LGMD Awareness Foundation

2. Hamstring/hip flexor releases: for severe knee-flexion or hip-flexion contractures that impair sitting, standing, or hygiene; chosen carefully after PT splinting. LGMD Awareness Foundation

3. Spinal fusion for scoliosis: if progressive curves reduce sitting balance or lung function; goal is better posture and easier care. LGMD Awareness Foundation

4. Foot/ankle tendon transfers or stabilization: to improve foot clearance and brace tolerance in severe deformity. LGMD Awareness Foundation

5. Tracheostomy (select advanced cases): if non-invasive ventilation is no longer enough; provides secure airway and continuous support. LGMD Awareness Foundation

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Preventions

1. Keep up with vaccines (flu annually; others by schedule). LGMD Awareness Foundation

2. Hand hygiene and prompt care for chest infections. LGMD Awareness Foundation

3. Daily stretches to delay contractures. LGMD Awareness Foundation

4. Fall-proof your home (lighting, remove clutter, rails). LGMD Awareness Foundation

5. Weight management to reduce effort of movement and breathing. LGMD Awareness Foundation

6. Avoid over-exertion; choose low-impact activity. LGMD Awareness Foundation

7. Seat/posture checks every 6–12 months. LGMD Awareness Foundation

8. Medication review to avoid myotoxic drugs when possible. LGMD Awareness Foundation

9. Bone health: vitamin D/calcium adequacy and safe sunlight. LGMD Awareness Foundation

10. Emergency plan with baseline lung function and contacts. LGMD Awareness Foundation

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When to see doctors (red flags)

See your neuromuscular team urgently for: new or faster weakness, repeated falls, fever with cough or shortness of breath, morning headaches or daytime sleepiness (possible night breathing problem), chest pain or palpitations, sudden back curve worsening, painful swollen calf after travel, or difficulty swallowing liquids. Routine 6–12-month reviews are still needed even if you feel stable. LGMD Awareness Foundation

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What to eat & what to avoid

Eat more of:

1. Balanced meals with lean protein at each meal;

2. Fruits/vegetables for fiber and antioxidants;

3. Calcium & vitamin D sources for bones;

4. Whole grains for steady energy;

5. Fluids to prevent constipation. LGMD Awareness Foundation

Limit/avoid:

1. Large amounts of added sugar;
2. Ultra-processed salty snacks;
3. Very high-dose single supplements without labs;
4. Crash diets that lose muscle;
5. Excess alcohol that worsens balance and sleep. LGMD Awareness Foundation

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FAQs

1) Is LGMD2U the same as muscular dystrophy?
Yes. It is one of the many limb-girdle muscular dystrophies caused by a CRPPA/ISPD gene problem. NCBI

2) How common is it?
Very rare—fewer than 1 in a million people. Exact numbers are unknown. Orpha.net

3) When do symptoms start?
Usually in infancy or childhood with trouble running, climbing, or getting off the floor. NCBI

4) What tests confirm it?
Blood CK, muscle MRI/biopsy (showing dystrophic changes and α-dystroglycan hypoglycosylation), and CRPPA genetic testing. NCBI

5) Is heart involved?
It can be in some people; everyone should have periodic ECG/echo checks as advised. NCBI

6) Is breathing involved?
Sometimes. Regular lung function checks and sleep studies help detect early hypoventilation. LGMD Awareness Foundation

7) Are there cures?
Not yet. Care focuses on therapy, braces, and targeted symptom control. NMD Journal

8) Do steroids help?
They are not approved for LGMD and benefit is uncertain; risks must be weighed carefully. NMD Journal

9) Will exercise harm my muscles?
Well-planned, low-to-moderate exercise is safe and helpful; avoid heavy, fatiguing regimens. LGMD Awareness Foundation

10) Can diet fix it?
No diet cures it, but good nutrition supports energy, bones, and recovery from illness. LGMD Awareness Foundation

11) Should my family be tested?
Genetic counseling can arrange testing for siblings and discuss future pregnancies. LGMD Awareness Foundation

12) Are clinical trials available?
Trial activity varies by LGMD subtype; stay connected with registries and neuromuscular centers. NMD Journal

13) What about school and work?
With accommodations, many people attend school and work successfully. OT can help tailor supports. LGMD Awareness Foundation

14) What equipment helps most?
Ankle-foot orthoses, seating systems, safe transfers (lifts), and cough-assist devices when needed. LGMD Awareness Foundation

15) What’s the long-term outlook?
It varies. Some walk into adulthood; others need mobility aids earlier. Regular follow-up helps plan ahead. NCBI

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: October 10, 2025.

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