Two generations of a family affected by hereditary motor and sensory neuropathy with pyramidal signs (HMSN V) were clinically and electrophysiologically examined. Apart from electroneurographic studies, the central motor conduction (CMC) to arm and leg muscles was assessed using magnetic transcranial motor cortex stimulation. Abnormal CMC was confined to the clinically affected members, with th...

Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuro...

Received 12 November 1996 and in revised form 16 January 1997 Accepted 14 February 1997 Abstract Background-Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an inherited axonal neuropathy of the peripheral nervous system. Three autosomal dominant CMT2 loci have been located on chromosomes lp35-p36 (CMT2A), 3ql3-q22 (CMT2B), and 7pl4 (CMT2...

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy that exhibits progressive muscular atrophy in the limbs, beginning with the lower extremities. It is now understood to be a heterogeneous group of disorders that can be differentiated both clinically and genetically. In Charcot-Marie-Tooth disease type II C, axonal neuropathy, diaphragm weakness, and vocal cord paralysis a...