Orphanet: Hypomyelination with atrophy of basal ganglia and cerebellum

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Hypomyelination with atrophy of basal ganglia and cerebellum

Disease definition

A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

ORPHA:139441

Classification level: Disorder

Synonym(s):
- H-ABC
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Childhood
ICD-10: E75.2
OMIM: 612438 617899
UMLS: -
MeSH: -
GARD: 10917
MedDRA: -

Summary

Epidemiology

So far, around 20 cases have been reported in the literature. The syndrome affects both males and females and onset occurs in infancy or early childhood.

Etiology

The etiology is unknown.

Diagnostic methods

H-ABC is diagnosed on the basis of the distinctive MRI findings of diffuse but partial hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy and atrophy of the basal ganglia.

Genetic counseling

All of the reported cases were sporadic and the mode of inheritance remains unclear.

- Last update: September 2008

A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)

Detailed information

Disease review articles

Review article
English (2011) - Expert Rev Neurother

Clinical genetics review
English (2016) - GeneReviews

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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