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Muscular Dystrophy: Causes, Symptoms & Treatment
Muscular dystrophy is a group of inherited muscle diseases that cause progressive muscle weakness and loss of muscle mass, primarily affecting skeletal muscles.
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Muscular dystrophy is a group of inherited muscle diseases that cause progressive muscle weakness and loss of muscle mass, primarily affecting skeletal muscles.
What is Muscular Dystrophy?
Muscular dystrophy refers to a group of genetic disorders characterized by progressive weakness and degeneration of the skeletal muscles that control movement. The term derives from the Greek words for muscle (mys) and faulty nourishment or poor development (dystrophia). Millions of people worldwide are affected. The various forms differ significantly in severity, age of onset, and the muscle groups involved.
Causes
Muscular dystrophies are caused by mutations in specific genes responsible for producing structural proteins essential for healthy muscle cells. When these proteins are absent or defective, muscle cells are progressively damaged and eventually die.
- Duchenne Muscular Dystrophy (DMD): The most common and severe form; caused by mutations in the dystrophin gene on the X chromosome; primarily affects males.
- Becker Muscular Dystrophy (BMD): Also caused by dystrophin mutations but follows a milder course than DMD.
- Facioscapulohumeral Muscular Dystrophy (FSHD): Affects the face, shoulders, and upper arms; follows an autosomal dominant inheritance pattern.
- Limb-Girdle Muscular Dystrophy (LGMD): Mainly affects the shoulder and pelvic girdle muscles.
- Myotonic Dystrophy (Steinert disease): The most common adult-onset form; affects muscles as well as other organ systems.
Symptoms
Symptoms vary depending on the type of muscular dystrophy but share common features:
- Progressive muscle weakness and loss of muscle mass
- Frequent tripping or falling
- Difficulty rising from the floor (classic Gowers sign in children)
- Waddling gait
- Enlarged calves due to fatty tissue replacement (pseudohypertrophy)
- Breathing difficulties in advanced disease
- Heart problems (cardiomyopathy) in certain forms
- Swallowing difficulties
Diagnosis
Diagnosis is confirmed through a combination of assessments:
- Medical history and physical examination: Evaluation of muscle wasting, gait, and reflexes.
- Blood tests: Elevated creatine kinase (CK) levels indicate muscle cell damage.
- Genetic testing: Identifies specific gene mutations for precise classification of the disease type.
- Muscle biopsy: Tissue sample examined microscopically for structural changes and protein analysis.
- Electromyography (EMG): Measures the electrical activity of muscles.
- Muscle MRI: Imaging to assess the extent and distribution of muscle degeneration.
Treatment
A complete cure is currently not available for most forms of muscular dystrophy. Treatment focuses on slowing disease progression, preventing complications, and improving quality of life.
Drug Therapy
- Corticosteroids (e.g., prednisone, deflazacort): Slow muscle degeneration in DMD but are associated with side effects.
- Ataluren (Translarna): Approved for DMD patients with specific nonsense mutations.
- Exon-skipping therapies (e.g., eteplirsen, golodirsen): Innovative gene-based approaches targeting specific DMD mutations.
- Cardiac medications (ACE inhibitors, beta-blockers) when the heart is affected.
Physiotherapy and Rehabilitation
- Physical therapy to maintain mobility and delay the development of contractures.
- Occupational therapy to support daily living activities.
- Respiratory therapy and, if necessary, ventilatory support when breathing muscles are impaired.
Assistive Devices and Surgery
- Orthoses, wheelchairs, and other assistive devices to preserve mobility.
- Surgical interventions for severe contractures or scoliosis.
Genetic Counseling
Because muscular dystrophies are inherited conditions, genetic counseling is strongly recommended for affected families. It helps assess the risk of recurrence and guides testing of other family members.
References
- Mercuri E, Bonnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394(10213):2025-2038.
- Bushby K et al. Diagnosis and management of Duchenne muscular dystrophy, part 1. Lancet Neurol. 2010;9(1):77-93.
- National Institute of Neurological Disorders and Stroke (NINDS): Muscular Dystrophy Information. https://www.ninds.nih.gov
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