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In 2010, CMT was one of the first diseases where the genetic cause of a particular patient's disease was precisely determined by sequencing the whole genome of an affected individual. This was done by the scientists employed by the Charcot Marie Tooth Association (CMTA). [46] [26] Two mutations were identified in a gene, SH3TC2, known to cause ...
Classifications of Charcot–Marie–Tooth disease refers to the types and subtypes of Charcot–Marie–Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
Prolonged fatigue is fatigue that persists for more than a month, and chronic fatigue is fatigue that lasts at least six consecutive months, which may be caused by a physical or psychological illness, or may be idiopathic (no known cause). [1] Chronic fatigue with a known cause is twice as common as idiopathic chronic fatigue. [6]
Spinal type: Muscle weakness and atrophy as in other types of CMT, but set apart by being autosomal recessive inheritance. HMSN5: Charcot–Marie–Tooth with pyramidal features — 600361: Pyramidal type: onset between ages 5–12. Lower legs are affected first by muscle weakness and atrophy followed by the upper extremities.
Further causes of neuromuscular diseases are: Polymyositis. Inflammatory muscle disorders. Polymyalgia rheumatica (or "muscle rheumatism") is an inflammatory condition that mainly occurs in the elderly; it is associated with giant-cell arteritis (It often responds to prednisolone). [18] Polymyositis is an autoimmune condition in which the ...
This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies" or "neurogenic" disorders) or elsewhere (e.g., the brain). This muscular defect typically results in myalgia (muscle pain), muscle weakness (reduced muscle force), or premature muscle fatigue (initially normal, but declining muscle force).
The cause is believed to be muscle tension or spasms within the affected musculature. [1] Diagnosis is based on the symptoms and possible sleep studies. [1] Treatment may include pain medication, physical therapy, mouth guards, and occasionally benzodiazepine. [1] It is a relatively common cause of temporomandibular pain. [1]