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Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm.
Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, [1] whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders.
Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). [2] It preferentially affects the muscles of the hip girdle and shoulder girdle. No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.
LAMA2-related (merosin deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular dystrophy) α-Dystroglycanopathies (Walker–Warburg syndrome, muscle-eye-brain disease) Laminopathies
Beevor’s sign is characteristic of spinal cord injury between T9 and T10 levels. [3] The sign has also been observed in amyotrophic lateral sclerosis, a disease causing progressive weakening of the muscles of multiple areas of the body, and in facioscapulohumeral muscular dystrophy (FSHD), a disease named after areas of the body it preferentially weakens (face, shoulder, and upper arm).
Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin. [1]
Fulcrum Therapeutics Announces Topline Results from Phase 3 REACH Clinical Trial of Losmapimod in Facioscapulohumeral Muscular Dystrophy (FSHD) ― Losmapimod failed to show an improvement in relative surface area (RSA), a measure of reachable workspace (RWS), versus placebo at week 48 ―
(formerly Emery–Dreifuss muscular dystrophy 6, X-linked) Proximal muscles Variable (late childhood to adult-onset) Muscle hypertrophy precedes muscle atrophy. Biopsy shows myopathic or dystrophic changes, rimmed vacuoles, cytoplasmic bodies, and granulofilamentous material. [29] Emery–Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
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