Disease
Muscular Dystrophy
Overview of Muscular Dystrophy
Muscular Dystrophy (MD) refers to a group of inherited disorders that cause progressive weakening and degeneration of the muscles. It occurs due to abnormalities in genes responsible for muscle structure and function. Over time, patients may face difficulty walking, breathing, and even swallowing. The most well-known type is Duchenne Muscular Dystrophy (DMD), which primarily affects boys and manifests early in life. While there is no permanent cure yet, ongoing therapies and interventions can help manage symptoms, slow disease progression and enhance quality of life.
Types of Muscular Dystrophy
- Duchenne Muscular Dystrophy (DMD): Most common and severe form, usually begins in early childhood, primarily in males.
- Becker Muscular Dystrophy: Similar to DMD but progresses more slowly; symptoms appear in adolescence or adulthood.
- Limb-Girdle Muscular Dystrophy: Affects muscles around hips and shoulders, can occur in children or adults.
- Congenital Muscular Dystrophy: Present at birth; infants show low muscle tone and motor delays.
- Facioscapulohumeral Muscular Dystrophy: Affects facial, shoulder blade, and upper arm muscles; symptoms may appear in teens or adulthood.
- Myotonic Dystrophy: Involves prolonged muscle contractions; also affects heart, eyes, and endocrine systems.
- Oculopharyngeal Muscular Dystrophy: Affects muscles of eyelids and throat, leading to drooping eyelids and difficulty swallowing.
- Emery-Dreifuss Muscular Dystrophy: Characterised by joint stiffness and heart problems.
Symptoms of Muscular Dystrophy
- Progressive muscle weakness and fatigue
- Trouble walking or frequent falls
- Difficulty climbing stairs or lifting objects
- Muscle wasting or atrophy over time
- Curvature of the spine (scoliosis)
- Contractures or joint stiffness
- Respiratory issues in advanced stages
- Heart problems or arrhythmias (especially in DMD)
- Drooping eyelids or facial weakness (specific types)
Causes of Muscular Dystrophy
- Caused by mutations in genes responsible for muscle protein production
- Mostly inherited in nature, either X-linked (like DMD), autosomal dominant, or recessive
- Mutation in the dystrophin gene (in DMD) which leads to muscle damage
- Some cases may be spontaneous genetic mutations
Complications in Muscular Dystrophy
- Loss of ability to walk or move independently
- Respiratory failure due to weakened diaphragm
- Cardiomyopathy or irregular heartbeats
- Difficulty swallowing leading to aspiration
- Scoliosis and postural issues
- Shortened life expectancy in severe types like DMD
- Mental and emotional impact on patients and caregivers
Risk Factors of Muscular Dystrophy
- Family history of muscular dystrophy
- Gender, for example DMD primarily affects males
- Certain types more common in specific ethnic groups
- Genetic mutations that occur spontaneously
Preventions of Muscular Dystrophy
- Currently, no proven way to prevent muscular dystrophy
- Genetic counseling before conception can help at-risk couples
- Prenatal testing may detect some muscular dystrophy genes
- Early diagnosis and intervention can slow disease progression
Diagnosis of Muscular Dystrophy
- Clinical examination and family history review
- Blood tests for elevated creatine kinase (CK) levels
- Genetic testing to identify mutations
- Electromyography (EMG) to evaluate electrical activity in muscles
- Muscle biopsy to check for structural abnormalities
- Cardiac and respiratory evaluations in advanced stages
Treatments of Muscular Dystrophy
- No cure, but treatments help manage symptoms and slow progression
- Corticosteroids to improve strength and delay degeneration
- Heart medications for cardiac involvement
- Physical and occupational therapy to maintain mobility
- Respiratory support like ventilators or cough assistance
- Assistive devices – braces, wheelchairs, or walkers
- Surgical options for scoliosis or contractures
- Gene therapy and exon skipping drugs are emerging treatments
- Regular follow-ups with a multidisciplinary team
Prognosis of Muscular Dystrophy
- Varies by type and severity
- Duchenne MD often leads to loss of walking ability by early teens and reduced life expectancy
- Milder forms may have near-normal lifespans with support
- Early and comprehensive care improves life quality and longevity
Care at MyhealthMydoctor
- Personalised treatment coordination with top neurologists
- Genetic counseling and testing assistance
- Access to rehabilitation and physiotherapy
- Support with mobility aids and respiratory care
- International patients receive holistic support including travel, stay, and medical visas
- Ongoing monitoring and emotional support for both patient and family
- Cutting-edge access to gene therapy trials in leading Indian hospitals
Some Important Questions Patients Should Ask Their Doctor During a Consultation
- Can my child’s condition improve with treatment?
- Is this form of muscular dystrophy hereditary?
- What kind of lifestyle changes are needed?
- Will my child need surgery in the future?
- Are there any latest research-based therapies I should consider?
- How can we manage school and daily routine?
What Patients Expect from Doctors During Consultation
- Clear explanation of diagnosis and type of muscular dystrophy
- A compassionate approach in discussing prognosis
- Honest and updated opinion on available treatments
- Practical guidance on day-to-day management and nutrition
- Detailed referral to rehabilitation and supportive therapy
- Emotional reassurance and support network references
- A complete roadmap for ongoing care and emergencies