Muscular Dystrophy

Muscular dystrophies (MDs) are a group of inherited muscle diseases that cause progressive weakness and loss of muscle mass. The commonest and most severe is Duchenne Muscular Dystrophy (DMD), which affects boys and usually becomes evident before age 5. Other types include Becker, limb-girdle, facioscapulohumeral, myotonic, Emery-Dreifuss, and congenital forms.

Common early signs of DMD

• Late or clumsy walking in a boy.
• Frequent falls.
• Trouble getting up from the floor — uses hands on thighs to "climb up" (Gowers' sign).
• Difficulty running, jumping, climbing stairs.
• Walking on toes or waddling gait.
• Large, firm calves (pseudohypertrophy).
• Speech/learning delays in some.
• Raised muscle enzyme (CPK/CK) on routine blood test.

Diagnosis

• CPK blood test — very high in DMD.
• Genetic testing — identifies the dystrophin gene defect; standard for DMD.
• Sometimes muscle biopsy.
• Family genetic counselling — DMD is X-linked (affects boys; mothers can be carriers).
• Early diagnosis allows planning — schooling, supports, clinical trials, newer therapies.

Treatment — multi-disciplinary care

• Steroids — slow DMD progression substantially; managed by specialist neurologists/paediatricians.
• Physiotherapy, stretching, appropriate orthotics, wheelchairs and standing frames — essential.
• Cardiac monitoring — MDs often affect the heart.
• Respiratory support — from late childhood into adulthood; non-invasive ventilation extends life markedly.
• Spinal care — monitor for scoliosis.
• Nutrition — weight control important (steroids + reduced activity).
• Newer therapies — exon-skipping drugs, gene therapy — available in clinical trials and specialist centres in India; growing list.
• Mental-health and family support.

India support networks

• DMD Care, PCMD, Muscular Dystrophy Foundation India and several state groups provide practical help.
• Disability certificate unlocks schemes, education access, free assistive devices through ALIMCO/ADIP.
• Genetic counselling for family planning — carrier testing, prenatal diagnosis for future pregnancies.
• Early intervention through DEIC helps with schooling and function.
• Abandonment of care is a real issue — these are long journeys; support networks keep families resourced.

Muscular dystrophies are lifelong, but no longer without options. Coordinated care at a neuromuscular clinic (several Indian medical colleges now have them) extends life and substantially improves quality of life.