Charcot-Marine-Tooth (CMT-2) Polyneuropathy Syndrome: A Case Study.
Arbind Kumar Choudhary, Sadawarte Sahebrao Kishanrao
Keywords: CMT, Neuropathy, Nerve conduction, Polyneuropathy.
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.
 Charcot, J.M; Marie, P. 1886. Muscle atrophy progressive family often beginner by the foot and legs and reaching later the hands. Rev Med, 6: 97-138.
 Tooth, H. 1886. The peroneal type of progressive muscular atrophy. London, England: Cambridge University Press, pp. 69-140.
 Skre, H. 1974. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet, 6: 98-118.
 Dyck, P.J; Chance, P.F; Lebo, R; Carney, J.A. 1993. Hereditary motor and sensory neuropathies. In: Dyck, P.J; Thomas, P.K; Griffin, J.W; Low, P.W; Poduslo, J.F. (eds). Peripheral neuropathy. 3rd ed. Philadelphia: WB Saunders Co, pp. 1094.
 Dyck, P.J; Lambert, E.H. 1968. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol, 18: 603-618.
 Harding, A.E; Thomas, P.K. 1980. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain, 103: 259-80.
 Thomas, P.K; Calne, D.B. 1974. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatr, 37: 68–75.
 Reilly, M.M; Murphy, S.M; Laurá, M. 2011. Charcot-Marie-Tooth disease. J Peripher Nerv Syst, 16: 1–14.
 Gilliatt, R.W; Thomas, P.K. 1957. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med, 4: 104-107.