Orphanet: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

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Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Disease definition

A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.

ORPHA:506353

Classification level: Disorder

Synonym(s):
- Autosomal recessive complex SPG due to Kennedy pathway dysfunction
- Autosomal recessive spastic paraplegia type 81
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Infancy, Childhood
ICD-10: G11.4
OMIM: 618768
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

ORPHA:506353

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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