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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.
X-linked Charcot–Marie–Tooth disease type 3: This subtype is characterized by childhood/adolescent-onset pain and numbness, progressive distal muscle weakness and atrophy which begins in the lower limbs and spreads to the upper limbs, distal upper and lower limb pain sensation loss, high-arched feet, and areflexia or hyporeflexia of the ...
Increased levels of cAMP within the muscle fibers cause increased release of Ca2+ from the muscle fiber's sarcoplasmic reticulum which eventually leads to more muscle contractions. Like the nervous system proposal increased muscle contractions eventually evoke muscle fiber fatigue, weakness, and finally degradation, which are characteristic ...
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 ...
Muscle weakness is a lack of muscle strength. Its causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, including muscular dystrophy and inflammatory myopathy.
Myalgia or muscle pain is a painful sensation evolving from muscle tissue. It is a symptom of many diseases . The most common cause of acute myalgia is the overuse of a muscle or group of muscles ; another likely cause is viral infection , especially when there has been no injury .