Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI
| Autor: | Frans G. I. Jennekens, Jan B. Bijlsma, Elly F. Ippel, D. Wittebol-Post |
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| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Offspring Disease Audiology Genetic Heterogeneity 03 medical and health sciences 0302 clinical medicine Atrophy 030225 pediatrics Humans Medicine Hereditary Sensory and Autonomic Neuropathies Heterogeneous group business.industry Genetic heterogeneity Muscle weakness Peroneal muscular atrophy Middle Aged medicine.disease Pedigree Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) medicine.symptom business Hereditary motor and sensory neuropathy 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 10:459-463 |
| ISSN: | 1708-8283 0883-0738 |
| Popis: | Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that share peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents, suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and the present family show that hereditary motor and sensory neuropathy type VI is a genetically heterogeneous disorder, with either an autosomal recessive or autosomal dominant pattern of inheritance. (J Child Neurol 1995;10:459-463). |
| Databáze: | OpenAIRE |
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