COASY protein-associated neurodegeneration

Orpha code: 397725OMIM code: 615643

Definicja

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

Disease data
Klasyfikacja

Disease

Synonimy
CoPAN
CoPAN
NBIA6
Neurodegeneracja z magazynowaniem żelaza w mózgu z powodu mutacji COASY
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
Kod ORPHA
397725
Kod OMIM
615643
Kod ICD10
G23.0
Kod ICD11
-

No additional description.

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