Preferred Name

Spastic Paraplegia, Hereditary [Disease/Finding]
Synonyms

Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy

HMSN V (Hereditary Motor and Sensory Neuropathy Type V)

Hereditary Motor And Sensory Neuropathy V

Type V Hereditary Motor and Sensory Neuropathy

HMSN Type V

Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia

Hereditary Motor and Sensory Neuropathy 5

Spastic Paraplegia, Hereditary

HMSN V

CMT with Pyramidal Features

Hereditary Spastic Paraplegia

HMSN 5

Hereditary Motor-Sensory Neuropathy with Pyramidal Signs

Paraplegia, Spastic, Hereditary

ID

http://purl.bioontology.org/ontology/NDFRT/N0000003231

altLabel

Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy

HMSN V (Hereditary Motor and Sensory Neuropathy Type V)

Hereditary Motor And Sensory Neuropathy V

Type V Hereditary Motor and Sensory Neuropathy

HMSN Type V

Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia

Hereditary Motor and Sensory Neuropathy 5

Spastic Paraplegia, Hereditary

HMSN V

CMT with Pyramidal Features

Hereditary Spastic Paraplegia

HMSN 5

Hereditary Motor-Sensory Neuropathy with Pyramidal Signs

Paraplegia, Spastic, Hereditary

cui

C0037773

MESH DEFINITION

A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)

MESH DUI

D015419

MeSH name

Spastic Paraplegia, Hereditary

MESH UI

M0023769

NDFRT kind

DISEASE_KIND

notation

N0000003231

NUI

N0000003231

prefLabel

Spastic Paraplegia, Hereditary [Disease/Finding]

SNOMED CID

39912006

76043009

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000003229

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