LANDOUZY DEJERINE DYSTROPHIES Meaning and
Definition
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Landouzy-Dejerine dystrophies are a group of inherited neuromuscular disorders that primarily affect the muscles of the face, shoulder girdle, and upper arms. These dystrophies are characterized by progressive weakness, wasting of muscle tissue, and the formation of abnormal fibrous tissue. The term "Landouzy-Dejerine dystrophies" is derived from the names of the two French physicians who first described this condition, Jules Emile Landouzy and Eugène Joseph Dejerine.
There are several subtypes of Landouzy-Dejerine dystrophies, but the most common form is facioscapulohumeral muscular dystrophy (FSHD). FSHD typically presents with weakness and atrophy of the muscles in the face, shoulders, and upper arms. Other forms of Landouzy-Dejerine dystrophies include scapuloperoneal muscular dystrophy and distal muscular dystrophy, which affect different muscle groups.
The underlying cause of Landouzy-Dejerine dystrophies is currently unknown, but it is believed to involve a genetic mutation that disrupts the normal function of muscle cells. These mutations are usually inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder.
Currently, there is no cure for Landouzy-Dejerine dystrophies, and treatment mainly focuses on managing symptoms and improving quality of life. Physical therapy and exercise programs can help maintain muscle strength and function, while assistive devices such as braces and wheelchairs may be used to enhance mobility. Genetic counseling may be recommended for individuals with a family history of Landouzy-Dejerine dystrophies to understand the risk of passing on the
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