Spastic paraparesis-deafness syndrome
Synonyms: Spastic paraparesis-hearing loss syndrome | Wells-Jankovic syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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Spastic paraparesis-deafness syndrome?
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