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Definition

An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family.

Acronym

MASA

Synonyms

Adducted thumb with mental retardation
Clasped thumb and mental retardation
Corpus callosum hypoplasia-psychomotor retardation, adducted thumbs-spastic paraparesis-hydrocephalus
CRASH
MASA syndrome

Keywords

Hereditary spastic paraplegia
Mental retardation

 
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