Myofibrillar Myopathy (MFM / मायोफिब्रिलर मायोपैथी) एक rare genetic muscle disorder है।
- यह disorder skeletal muscles को प्रभावित करता है।
- Muscle fibers में abnormal protein aggregates जमा हो जाते हैं, जिससे muscle weakness और wasting होती है।
- Onset childhood, adolescence या adulthood में हो सकता है।
- MFM slowly progressive होती है और अलग-अलग clinical severity में दिखाई देती है।
Myofibrillar Myopathy क्या है (What is Myofibrillar Myopathy)
- Group of genetically heterogeneous myopathies
- Characterized by:
- Disintegration of myofibrils
- Accumulation of abnormal proteins (desmin, αB-crystallin)
- Distal and proximal muscle weakness
- Can affect heart (cardiomyopathy) and respiratory muscles in some cases
Myofibrillar Myopathy कारण (Causes of Myofibrillar Myopathy)
1. Genetic Mutations
- Mutations in genes encoding sarcomeric and Z-disk proteins:
- DES (Desmin), CRYAB (αB-crystallin), MYOT (Myotilin), BAG3, FLNC (Filamin C)
- Autosomal dominant, autosomal recessive या sporadic inheritance
2. Protein Aggregate Formation
- Misfolded proteins accumulate in muscle fibers
- Leads to muscle fiber degeneration and weakness
3. Age of Onset
- Childhood or adult-onset depending on gene mutation
Myofibrillar Myopathy लक्षण (Symptoms of Myofibrillar Myopathy)
- Slowly progressive muscle weakness (distal or proximal)
- Muscle wasting (atrophy)
- Difficulty walking, climbing stairs, or lifting objects
- Foot drop in some cases
- Cardiomyopathy or arrhythmias in cardiac involvement
- Fatigue and mild respiratory difficulty in advanced stages
Symptoms vary depending on affected muscle groups और gene mutation।
Myofibrillar Myopathy कैसे पहचाने (Diagnosis of Myofibrillar Myopathy)
- Clinical Examination – progressive weakness, distal or proximal involvement
- Electromyography (EMG) – myopathic pattern with fibrillation potentials
- Muscle Biopsy – hallmark: myofibrillar disorganization and protein aggregates
- Genetic Testing – confirm causative mutation
- Cardiac Evaluation – ECG, echocardiography for heart involvement
Accurate diagnosis helps management and genetic counseling।
Myofibrillar Myopathy इलाज (Treatment of Myofibrillar Myopathy)
1. Supportive and Symptomatic Therapy
- Physical therapy to maintain mobility and muscle strength
- Occupational therapy for daily activity adaptation
2. Cardiac Management
- Regular cardiac monitoring
- Medications for cardiomyopathy or arrhythmias
- Pacemaker or defibrillator if required
3. Respiratory Support
- Non-invasive ventilation in advanced stages if respiratory muscles affected
4. Experimental Therapies
- Gene therapy and targeted protein therapy under research
- No curative therapy currently available
5. Lifestyle Measures
- Avoid overexertion
- Balanced diet and proper nutrition
रोकथाम (Prevention)
- Genetic counseling for affected families
- Prenatal testing in high-risk families
- Early detection and monitoring to prevent complications
सावधानियाँ (Precautions)
- Avoid high-impact activities that can cause falls or injuries
- Regular cardiac and respiratory check-ups
- Maintain physiotherapy regimen
- Prompt treatment of infections or fatigue to prevent complications
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. Myofibrillar Myopathy curable है?
नहीं, वर्तमान में कोई cure नहीं है। Treatment symptom management और quality of life improvement तक सीमित है।
Q2. यह genetic है?
हाँ, mostly autosomal dominant या recessive mutations से होता है।
Q3. Life expectancy affected होती है?
Depends on severity and cardiac involvement; proper management से normal life possible हो सकती है।
Q4. Muscle weakness शुरू होने का typical age क्या है?
Childhood, adolescence या adulthood; gene mutation और subtype पर निर्भर करता है।
निष्कर्ष (Conclusion)
Myofibrillar Myopathy (मायोफिब्रिलर मायोपैथी) एक rare, progressive genetic muscle disorder है।
Early diagnosis, supportive care, physiotherapy, cardiac monitoring और genetic counseling से patient की quality of life बेहतर की जा सकती है।
यदि कोई slowly progressive muscle weakness, difficulty walking या cardiac symptoms अनुभव करे, तो तुरंत neurologist और cardiologist से consultation करें।