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Autosomal recessive spastic paraplegia type 5A

Disease definition

Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.

ORPHA:100986

Classification level: Disorder
  • Synonym(s):
    • SPG5A
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: G11.4
  • OMIM: 270800
  • UMLS: C1849115  C2931356
  • MeSH: C536871
  • GARD: 4926
  • MedDRA: -

Detailed information

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