Please sign in to follow a disease.
MASA syndrome
MONDO:0010559MASA 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 spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
Also known as: Gareis-Mason syndrome, MASA syndrome, intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, masa syndrome, X-linked recessive, spastic paraplegia, X-linked, CRASH syndrome, CRASH syndrome, X-linked recessive, Clasped thumb and intellectual disability
2 clinical trials for this condition and its sub-types, 0 tagged with MASA syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
Can ultrasound make botox injections more precise for stiff muscles?
Disease control Recruiting nowThis trial tests whether using ultrasound to guide botulinum toxin injections into spastic leg muscles works better than the standard method of relying on touch and anatomical landmarks. Researchers will give 40 adults with spastic paraplegia two rounds of injections, one with ea…
Phase 4 • Sponsor: Universidade Federal Fluminense • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
-
Can a massive natural history study unlock the secrets of rare movement disorders?
Knowledge-focused Recruiting nowThis study follows thousands of people with ataxia, hereditary spastic paraplegia, and spastic ataxia, rare conditions that cause progressive problems with walking, balance, and coordination. Researchers will track how symptoms evolve using clinical exams, patient reports, digita…
Sponsor: Heidelberg University • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC