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Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

Department of Neurology, Sofia Medical University, Sofia, Bulgaria, vguerbliz{at}abv.bg., Ethnic Minorities Health Problems Foundation, Sofia, Bulgaria

Ivailo Tournev, MD, DSc

Department of Neurology, Sofia Medical University, Sofia, Bulgaria, Ethnic Minorities Health Problems Foundation, Sofia, Bulgaria

Veneta Bojinova, MD, PhD

Department of Neurology, Sofia Medical University, Sofia, Bulgaria

Janina Hantke, MSe

Western Australian Institute for Medical Research and the UWA D103 Centre for Medical Research, University of Western Australia, Perth, Australia

Ivan Litvinenko, MD, PhD

Department of Pediatrics, Sofia Medical University, Sofia, Bulgaria

Boryana Ishpekova, MD, DSc

Department of Neurology, Sofia Medical University, Sofia, Bulgaria

Alexander Shmarov, MD, PhD

Department of Neurology, Sofia Medical University, Sofia, Bulgaria

Julia Petrova, MD, PhD

Department of Neurology, Sofia Medical University, Sofia, Bulgaria

Albena Jordanova, PhD

Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria

Luba Kalaydjieva, MD, PhD

Western Australian Institute for Medical Research and the UWA D103 Centre for Medical Research, University of Western Australia, Perth, Australia

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. (J Child Neurol 2006;21:20—25).

Journal of Child Neurology, Vol. 21, No. 1, 20-25 (2006)
DOI: 10.1177/08830738060210010401


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