Neuronopathy, Distal Hereditary Motor, Type Vc (HMN5C)

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OMIM® 57 619112

SNOMED-CT via HPO 68 205091006 228158008 246586009 263681008 366575004 413813004 more

OMIM® : ⁵⁷ Distal hereditary motor neuronopathy type VC (dHMN5C or HMN5C) is an autosomal dominant neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMN5C, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by Van de Warrenburg et al., 2006; Luigetti et al., 2010; Choi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960). (619112) (Updated 05-Mar-2021)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Vc, also known as spinal muscular atrophy, distal, type 5c; dsma5c, is related to spastic paraplegia 17 and encephalopathy, progressive, with or without lipodystrophy. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Vc is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Related phenotypes are babinski sign and chaddock reflex

Clinical features from OMIM®:

619112 (Updated 05-Mar-2021)

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