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Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. [2] The muscle protein, dystrophin, is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax. [3] It links the muscle membrane to the thin muscular filaments within the cell.
Duchenne muscular dystrophy is a rare progressive disease that eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Life expectancy is estimated to be around 25–26, [18] [59] but this varies. People born with Duchenne muscular dystrophy after 1990 have a median life expectancy of approximately ...
Ullrich congenital muscular dystrophy; Other names: Scleroatonic muscular dystrophy [1] Autosomal recessive pattern is the inheritance manner of this condition: Symptoms: Muscle weakness [2] Types: UCMD1, UCMD2: Causes: Mutations in the COL6A1, COL6A2, COL6A3, and COL12A1 gene [3] Diagnostic method: Physical exam, Medical history [3] Medication
DM1 is the most common form of myotonic muscular dystrophy diagnosed in children, with a prevalence ranging from 1 per 100,000 in Japan to 3–15 per 100,000 in Europe. [13] The prevalence may be as high as 1 in 500 in regions such as Quebec, possibly due to the founder effect. The incidence of congenital myotonic dystrophy is thought to be ...
Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement (skeletal muscles), causing atrophy, weakness, and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden ...
Becker muscular dystrophy; Other names: Benign pseudohypertrophic muscular dystrophy [1] X-linked recessive is the manner in which this condition is inherited: Specialty: Neurology Symptoms: Severe upper extremity muscle weakness, [2] Toe-walking [3] Causes: Mutations in DMD gene [4] Diagnostic method: Neurological exam, muscle exam [3] Treatment
Other distal muscular dystrophies Type Eponym Inheritance OMIM Gene Locus Gene also implicated in: Distal myopathy with vocal cord and pharyngeal weakness [4] AD [5] 606070: MATR3 [5] 5q31 [5] Amyotrophic lateral sclerosis 21 (ALS21). One study suggests that all cases are ALS, justifying reclassification. [12]
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.