Charcot-Marine-Tooth (CMT-2) Polyneuropathy Syndrome: A Case Study.

摘要

Abstract: Charcot-Marie-Tooth disease (CMT) refers to the inherited peripheral neuropathies affect approximately one in 2500 people; they are among the most common inherited neurological disorders. The majority of CMT patients have autosomal dominant inheritance, although X-linked dominant, and autosomal recessive forms also exist. The majority of cases are demyelinating although up to one third appear to be primary axonal or neuronal disorders. A patient of 9-year-old girl, visited our hospital because of began to suffer from an insidious onset of progressive distal weakness and numbness, and muscle twitching in both in her upper and lower limbs. Nerve conduction studies showed, sensory nerve conduction (SNCV) of bilateral median and ulnar nerve was reduced in upper limb and bilateral sural nerve was reduced in lower limb, While in case of motor nerve conduction (MNCV) bilateral median and ulnar nerve was reduced in upper limb and common peroneal nerve (CPN), as well as posterior tibial nerve was decreased leg. F response latencies were markedly prolonged in patient. Family history along with electrophysiological studied showed; It was typical case of autosomal dominant CMT 2 axonal neuropathy. CMT is currently an untreatable disorder and at the moment the treatment of CMT is only supportive, as there are no drugs available that would halt the disease symptoms. The care of a CMT patient is challenging for the health care team.