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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 ...
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 ...
The nerve damage from CMT can result in muscle shrinkage and weakness, especially in the ankles and feet. ... Although some nerve damage, or neuropathy, can cause pain or loss of sensation, ...
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 ...
When there is dysfunction at this transitional joint, it can cause referred pain to the lower back, hip, abdominal, and/or groin/testicular/labia area, Dr. Megan Daley, PT, DPT, Cert Dn, CF-L1 ...
Muscle cramps could also potentially stem from a nerve problem (such as nerve compression), exercising in the heat, a lack of stretching, muscle fatigue, body stress, medication side effects or ...
The most common type of hyperthyroidism, Graves' disease, may additionally cause eye problems (Graves' ophthalmopathy) and skin changes of the legs (pretibial myxedema). [6] Thyroid disease may also cause muscle weakness in the form of thyrotoxic myopathy, but this is constant rather than episodic. [5]
Age. The risk of most causes of joint pain increases with age. This may be due to increased wear and stress on joints over time and a higher likelihood of other underlying medical conditions ...