Living with MASA syndrome
An inherited condition on the X chromosome with learning difficulties, delayed speech, and stiff muscles that affects mostly boys.
Understanding MASA syndrome
It includes mild to moderate intellectual disability, delayed speech, low muscle tone that becomes stiffness (spasticity), thumbs turned into the palm (adducted thumbs), and mildly enlarged fluid spaces in the brain. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech
- Stiff leg muscles (spastic paraplegia)
- Abnormal gait
- Thumbs turned into the palm
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in L1CAM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Spastic Paraplegia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Spastic Paraplegia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the L1CAM gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: gareis-mason syndrome; hereditary spastic paraplegia 1; intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome; masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome; masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia)
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with MASA syndrome.
Explore research for MASA syndrome
Explore actively recruiting MASA syndrome studies with HealthSpark.
Find actively recruiting studies for MASA syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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