Spastic paraplegia 1

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Alternate names

MASA syndrome; Gareis-Mason syndrome; Crash syndrome

Definition

A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

NIH genetic and rare disease info

Spastic paraplegia 1 is a rare disease.


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