NGS345A: Charcot-Marie-Tooth Disease, Axonal (NGS Panel and Copy Number Analysis + mtDNA)

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of progressive disorders characterized by a chronic motor and sensory polyneuropathy. CMT neuropathies are the most common cause of hereditary neuropathy. CMT neuropathies are also known as hereditary motor and sensory neuropathies (HMSN), because they are characterized predominately by motor and sensory symptoms. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. CMT hereditary neuropathy syndrome can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. CMT disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or hammer toes. Affected individuals often have difficulty flexing the foot or walking on the heel of the foot. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision.

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