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Autosomal recessive spastic paraplegia type 20

Disease definition

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

ORPHA:101000

Classification level: Disorder
  • Synonym(s):
    • Childhood-onset spastic paraparesis-distal muscle wasting syndrome
    • SPG20
    • Troyer syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.4
  • OMIM: 275900
  • UMLS: C0393559
  • MeSH: -
  • GARD: 5372
  • MedDRA: -

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