Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Orpha code: 1217OMIM code:

Definition

Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.

Disease data
Classification

Disease

Synonyms
Hamano-Tsukamoto syndrome
Zespół Hamano i Tsukamoto
ORPHA code
1217
OMIM code
-
ICD10 code
G12.2
ICD11 code
-

No additional description.

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