Autosomal recessive spastic paraplegia type 71

MedGen UID:: 1680976
•Concept ID:: C5190578
•: Disease or Syndrome

Synonyms:	autosomal recessive spastic paraplegia type 71; SPG71
SNOMED CT:	Autosomal recessive spastic paraplegia type 71 (782726004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018423
Orphanet:	ORPHA401840

Definition

Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive spastic paraplegia type 71

Autosomal recessive pure spastic paraplegia
- Autosomal recessive spastic paraplegia type 71

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Autosomal recessive spastic paraplegia type 71

Definition

Term Hierarchy

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