Orphanet: Spastic paraparesis deafness syndrome
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Spastic paraparesis-deafness syndrome

Disease definition

A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.

ORPHA:2815

Classification level: Disorder
  • Synonym(s):
    • Spastic paraparesis-hearing loss syndrome
    • Wells-Jankovic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 312910
  • UMLS: C2931291
  • MeSH: -
  • GARD: 5555
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

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