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Spinocerebellar ataxia with epilepsy

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Alpers syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

Spinocerebellar ataxia with epilepsy

Alpers syndrome

POLG

(UniProt - OMIM)

POLG

(UniProt - OMIM)


COMMON GENES	POLG

Citations in the biomedical literature:

Spinocerebellar ataxia with epilepsy		Alpers syndrome
	Synonym(s): - MSCAE - Mitochondrial spinocerebellar ataxia with epilepsy - SCAE		Synonym(s): - Alpers progressive sclerosing poliodystrophy - Alpers-Huttenlocher syndrome - Progressive neuronal degeneration of childhood with liver disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: - Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D002549

Alpers syndrome
	Frequent - Anomalies of eyes and vision - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus
Spinocerebellar ataxia with epilepsy
(no data available)