Hereditary motor and sensory neuropathy V

Preferred Label : Hereditary motor and sensory neuropathy V;

CISMeF acronym : HMSN5;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cmt with pyramidal features; Peroneal muscular atrophy with pyramidal features, autosomal dominant; HMSN5; Charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant; Charcot-marie-tooth disease with pyramidal features, autosomal dominant; Hmsn V;

Description : Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; 118200) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; 118210). See also HMSN III (145900) and HMSN IV (266500). For an autosomal recessive disorder with similarities to HMSN V, see 607731.;

Inheritance : Autosomal dominant;

Prefixed ID : %600361;

Details

Origin ID

600361;

UMLS CUI

C4721916;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth Disease [NCIt concept]
- charcot-marie-tooth disease [MeSH Descriptor]
- hereditary autosomal dominant spastic paraplegia [MeSH concept]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH concept]
Currated CISMeF NLP mapping
- Hereditary motor and sensory neuropathy type 5 [ORDO Disease]
- Hereditary motor and sensory neuropathy type 5 (disorder) [SNOMED CT concept]
- Hereditary motor or sensory neuropathy type 5 [ICD-11 More detail]
- Hereditary sensory-motor neuropathy, type V (disorder) [SNOMED CT concept]
- hereditary sensory-motor neuropathy, type v [SNOMED Notion]
- spastic paraplegia, hereditary [MeSH Descriptor]
DO Cross reference
- Charcot-Marie-Tooth disease type 5 [DO Concept]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Childhood onset [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Difficulty walking [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Dysphonia [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Frequent falls [HPO term]
- Hammertoe [HPO term]
- Heterogeneous [HPO term]
- Hypertonia [HPO term]
- Limb muscle weakness [HPO term]
- Lower limb pain [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Sensory neuropathy [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Hereditary motor and sensory neuropathy type 5 [ORDO Disease]
See also inter- (CISMeF)
- hereditary spastic paraplegia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Spastic Paraplegia [NCIt concept]
- Hereditary motor and sensory neuropathy type 5 [ORDO Disease]
- Hereditary motor and sensory neuropathy type 5 (disorder) [SNOMED CT concept]
- Hereditary sensory-motor neuropathy, type V (disorder) [SNOMED CT concept]
- Hereditary spastic paraplegia [MedDRA Preferred Term]
- Hereditary spastic paraplegia [ICD-10 Sub-category (who)]
- Hereditary spastic paraplegia [ICD-9 code]
- Hereditary spastic paraplegia [ICD-10 Sub-category]
- Hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- hereditary sensory-motor neuropathy, type v [SNOMED Notion]
- hereditary spastic paraplegia [SNOMED Notion]
- hereditary spastic paraplegia [DO Concept]
- spastic paraplegia, hereditary [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH concept]

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