Spastic paraparesis-deafness syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version March 2024

Newly diagnosed with
Spastic paraparesis-deafness syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.