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Types of muscular dystrophy?
Table of Contents
Introduction:
Muscular dystrophy refers to a group of genetic disorders characterized by progressive muscle weakness and degeneration. Each type of muscular dystrophy is distinct in its onset, progression, and affected muscle groups. This article delves into the various types of muscular dystrophy, shedding light on their causes, symptoms, and implications for those living with these conditions.
- Duchenne Muscular Dystrophy (DMD): DMD is a severe and progressive genetic disorder caused by a mutation in the dystrophin gene. It primarily affects boys and leads to muscle weakness, starting in the lower limbs and spreading to other muscle groups. Symptoms typically appear in early childhood, and individuals with DMD may require mobility aids and respiratory support as the disease advances.
- Becker Muscular Dystrophy (BMD): Similar to DMD, BMD is caused by a dystrophin gene mutation. However, it has a slower progression and milder symptoms. Individuals with BMD usually retain more mobility and function for a longer period compared to those with DMD.
- Myotonic Muscular Dystrophy (MMD): Myotonic Muscular Dystrophy is characterized by myotonia, prolonged muscle contractions, and muscle weakness. It is the most common adult-onset muscular dystrophy. MMD affects various muscle groups and can also impact other systems, such as the heart and eyes.
- Limb-Girdle Muscular Dystrophy (LGMD): LGMD is a group of disorders that primarily affect the muscles around the hips and shoulders. It leads to progressive muscle weakness and atrophy, impacting mobility and daily activities. LGMD has several subtypes, each caused by mutations in different genes.
- Fascioscapulohumeral Muscular Dystrophy (FSHD): FSHD affects the face, shoulders, and upper arms. It is caused by a genetic mutation that results in muscle fiber damage and weakness. Individuals with FSHD may experience difficulty raising their arms and may have a distinctive appearance due to facial muscle weakness.
- Emery-Dreifuss Muscular Dystrophy (EDMD): EDMD is characterized by muscle weakness, joint stiffness, and potential cardiac complications. It can affect the elbows, ankles, and neck. EDMD has X-linked and autosomal forms, with varying degrees of severity. Cardiac involvement is a significant feature of this type.
- Oculopharyngeal Muscular Dystrophy (OPMD): OPMD primarily affects the muscles of the eyes and throat. It leads to drooping eyelids, difficulty swallowing, and muscle weakness. OPMD is caused by a genetic mutation that affects protein production in muscle cells.
- Distal Muscular Dystrophy (DD): DD primarily affects the muscles of the hands, forearms, feet, and lower legs. It leads to muscle weakness and wasting in these distal muscle groups. DD is a rare type of muscular dystrophy with varying subtypes.
- Congenital Muscular Dystrophy (CMD): CMD refers to a group of disorders that are present from birth and result in muscle weakness, delayed motor milestones, and potential joint contractures. CMD has various subtypes, each with distinct features.
- Bethlem Myopathy: Bethlem Myopathy is a subtype of CMD characterized by muscle weakness and joint contractures. It has a milder progression compared to other types of muscular dystrophy.
- Ullrich Congenital Muscular Dystrophy (UCMD): UCMD is another subtype of CMD with features of muscle weakness, joint contractures, and potential respiratory involvement. It is caused by mutations in specific genes.
- Duchenne-Like Muscular Dystrophy (DLMD): DLMD is a rare condition that presents with symptoms similar to DMD but without the typical genetic mutation. It is caused by mutations in other genes involved in muscle function.
- Congenital Fiber-Type Disproportion: This type of muscular dystrophy is characterized by muscle weakness, particularly in muscles used for movement and posture. It is present from birth and can impact muscle tone and mobility.
- Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive (EDMD-AR): This subtype of EDMD is inherited in an autosomal recessive manner and shares features of muscle weakness, joint contractures, and potential cardiac involvement.
- GNE Myopathy (Nonaka Myopathy): GNE Myopathy is characterized by muscle weakness and wasting, particularly in the distal muscles of the legs and arms. It is caused by mutations in the GNE gene.
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