Abstract
Hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) belong to a complex family of hereditary disorders. Pure HSP is characterized by progressive spasticity and hyperreflexia of the legs. Complicated HSP forms have additional signs, such as mental retardation, cerebellar ataxia, optic atrophy, retinopathy, ichthyosis, deafness, and peripheral neuropathy.
HMSN type V represents a very rare form among the HMSNs (Table 74.1); the onset occurs usually in the second decade of life or later, and the course is slowly progressive. On EMG, the disease is characterized by a normal or slightly reduced motor and sensory velocity. In this study we present a large family with HMSN type V.
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Angelini, C. (2014). Charcot-Marie-Tooth Neuropathy with Pyramidal Features. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-07500-6_74
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DOI: https://doi.org/10.1007/978-3-319-07500-6_74
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