Muscle-Eye-Brain Disease (MEB / मसल-आई-ब्रेन डिज़ीज़) एक rare congenital muscular dystrophy है।
- यह disorder muscle weakness, eye abnormalities और brain malformations के combination से पहचाना जाता है।
- Genetic mutation के कारण होता है, और यह autosomal recessive inheritance pattern में आता है।
- Mostly infants और children में diagnosis होता है।
Muscle-Eye-Brain Disease क्या है (What is MEB Disease)
- Progressive muscle weakness और hypotonia (floppy muscles)
- Eye abnormalities – myopia, glaucoma, retinal malformations
- Brain malformations – cobblestone lissencephaly, hydrocephalus, cerebellar hypoplasia
- Affects movement, vision, and neurological development
MEB disease central nervous system और musculoskeletal system दोनों को प्रभावित करता है।
Muscle-Eye-Brain Disease कारण (Causes of Muscle-Eye-Brain Disease)
1. Genetic Mutation
- Mutation in POMGNT1 gene (protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1)
- Leads to defective glycosylation of alpha-dystroglycan
2. Inheritance Pattern
- Autosomal recessive
- Both parents must be carriers
3. Pathophysiology
- Glycosylation defect → muscle fiber instability
- Brain development abnormal → neuronal migration defects
- Eye tissue affected → retinal and lens abnormalities
Muscle-Eye-Brain Disease लक्षण (Symptoms of Muscle-Eye-Brain Disease)
1. Muscular Symptoms
- Hypotonia (floppy muscles) at birth
- Delayed motor milestones
- Progressive muscle weakness
- Joint contractures in later stages
2. Eye Symptoms
- Myopia (short-sightedness)
- Glaucoma or cataracts
- Retinal malformations
- Strabismus (crossed eyes)
3. Brain Symptoms
- Intellectual disability / developmental delay
- Seizures
- Cerebellar ataxia – poor coordination
- Structural abnormalities on MRI – cobblestone lissencephaly
4. Other Signs
- Weak cry in infants
- Feeding difficulties
- Respiratory muscle involvement in severe cases
Muscle-Eye-Brain Disease कैसे पहचाने (Diagnosis of Muscle-Eye-Brain Disease)
- Clinical Examination – hypotonia, muscle weakness, delayed milestones
- Eye Examination – retinal abnormalities, glaucoma
- MRI Brain – cobblestone lissencephaly, cerebellar hypoplasia
- Genetic Testing – POMGNT1 mutation confirmation
- Muscle Biopsy – dystrophic changes and alpha-dystroglycan deficiency
Early diagnosis is essential for supportive care and family counseling।
Muscle-Eye-Brain Disease इलाज (Treatment of Muscle-Eye-Brain Disease)
1. Supportive Therapy
- Physical therapy – improve muscle strength and mobility
- Occupational therapy – daily activities assistance
- Orthopedic management – splints and braces for joint contractures
2. Eye Care
- Regular ophthalmologist follow-up
- Corrective lenses for myopia
- Surgery for glaucoma or cataract if required
3. Neurological Management
- Anticonvulsants for seizures
- Speech therapy for developmental delay
4. Nutritional & Respiratory Support
- Proper nutrition for growth
- Respiratory therapy if weak breathing muscles
Currently, no cure exists, treatment is symptomatic and multidisciplinary।
रोकथाम (Prevention)
- Genetic counseling for at-risk families
- Carrier testing in consanguineous marriages
- Prenatal diagnosis if known family mutation
- Early intervention in affected infants to improve quality of life
सावधानियाँ (Precautions)
- Avoid infections – respiratory muscles may be weak
- Monitor growth and development regularly
- Prevent falls due to poor coordination
- Adhere to physiotherapy and medical follow-up
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. MEB disease curable है?
नहीं, यह incurable congenital disorder है। Treatment symptomatic और supportive होता है।
Q2. यह genetic है?
हाँ, यह autosomal recessive disorder है।
Q3. Life expectancy क्या होती है?
Mild cases में childhood to adulthood survival possible है; severe cases में respiratory complications की वजह से life expectancy कम हो सकती है।
Q4. क्या early therapy मदद करती है?
हाँ, physiotherapy, occupational therapy और eye management से quality of life improve होती है।
निष्कर्ष (Conclusion)
Muscle-Eye-Brain Disease (मसल-आई-ब्रेन डिज़ीज़) एक rare, progressive congenital muscular dystrophy है।
Early diagnosis, multidisciplinary supportive care, physiotherapy, eye management और neurological support से patient का quality of life बेहतर किया जा सकता है।
अगर किसी बच्चे में muscle weakness, developmental delay या eye abnormalities दिखें, तो तुरंत geneticist और pediatric neurologist से consultation करें।