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Spastic paraparesis-deafness syndrome

Synonym(s) Wells-Jankovic syndrome
Prevalence -
Inheritance -
Age of onset Childhood
  • G11.4
  • C2931291
MeSH -
MedDRA -


Disease definition

Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.


It has been described in affecting at least six male members spanning three generations of a large family.

Clinical description

Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.

Differential diagnosis

Differential diagnosis includes adrenoleukodystrophy (see this term), but values for very long chain fatty acids are normal.

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