Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Orpha code: 352654OMIM code: 615491

Definition

A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

Disease data
Classification

Disease

Synonyms
Autosomal recessive spastic paraplegia type 79
Zespół postępującej neurodegeneracji o wczesnym początku, ślepoty, ataksji i spastyczności
ORPHA code
352654
OMIM code
615491
ICD10 code
G31.8
ICD11 code
-

No additional description.

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