Early clinical and electrophysiologic features of the two most common autosomal

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J Child Neurol. 2006 Jan;21(1):20-5.

Early clinical and electrophysiologic features of the two most common

autosomal recessive forms of charcot-marie-tooth disease in the roma

(gypsies).

Guergueltcheva V, Tournev I, Bojinova V, Hantke J, Litvinenko I,

Ishpekova B, Shmarov A, Petrova J, Jordanova A, Kalaydjieva L.

Our recent studies of the genetic epidemiology of neuromuscular

disorders in Gypsies in Bulgaria have revealed that two private

disorders, hereditary motor and sensory neuropathy type Lom and

hereditary motor and sensory neuropathy type Russe, account for most

cases of Charcot-Marie-Tooth disease in this population. In this

study, we examined the clinical and electrophysiologic manifestations

of the two disorders in childhood, aiming to identify the distinctive

features that allow early differential diagnosis. The study included

13 patients, aged between 2 and 15 years. The childhood clinical

manifestations of both neuropathies were similar, although they

tended to be more severe in hereditary motor and sensory neuropathy

type Lom. The nerve conduction velocities in hereditary motor and

sensory neuropathy type Lom were lower than in hereditary motor and

sensory neuropathy type Russe. Brainstem auditory evoked potentials

were abnormal in hereditary motor and sensory neuropathy type Lom,

even at an early age, and normal in hereditary motor and sensory

neuropathy type Russe. Although electrophysiologic data provide a

more reliable differentiation than clinical data, the definitive

diagnosis should rely on genetic testing.