MASA syndrome - Wikipedia
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias [1] a paraplegia known to increase stiffness spasticity in the lower limbs. [2]
MASA syndrome - National Organization for Rare Disorders
MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or ...
MASA syndrome | About the Disease | GARD - Genetic and Rare ...
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.
Orphanet: MASA syndrome
MASA syndrome. 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.
Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI ...
Aug 15, 2000 · SPG1 is more commonly referred to as MASA syndrome (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia, adducted thumbs). Allelic disorders are X-linked hydrocephalus with stenosis of the aqueduct of Sylvius and X-linked complicated corpus callosum agenesis.
Entry - #303350 - MASA SYNDROME - OMIM
Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs).
MASA Syndrome | Syndromes: Rapid Recognition and ...
X-Linked Hydrocephalus (Bickers Adams Syndrome): Characterized by severe hydrocephalus and caused by congenital stenosis of the aqueduct of Sylvius (HSAS). Other clinical features include macrocephaly, mental retardation, hypoplastic clasped or adducted thumbs, and/or spastic paraplegia.