X-linked spinocerebellar ataxia type 4
Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0016612
X-linked cerebellar ataxia
is_a
SCAX4
exact
X-linked ataxia-dementia syndrome
exact
ataxia-dementia syndrome X-linked
related
spinocerebellar ataxia X-linked type 4
related
spinocerebellar ataxia, X-linked type 4
exact