Living with Mast syndrome
An inherited condition, also called spastic paraplegia type 21, with slowly worsening leg stiffness and changes in thinking, speech, and movement.
Understanding Mast syndrome
It usually starts in adolescence or adulthood. Along with leg stiffness, people can have trouble with movement planning, thinking, and speech, plus personality changes and coordination problems. Subtle delays may show in childhood. MRI may show a thin corpus callosum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg muscle stiffness and weakness (spasticity)
- Trouble walking
- Decline in thinking and memory (dementia)
- Trouble planning movements (apraxia)
- Swallowing problems
- Personality changes
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 SPG21 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 SPG21 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 21; autosomal recessive spastic paraplegia type 21; hereditary spastic paraplegia 21; spastic paraplegia 21, autosomal recessive; spg21
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 Mast syndrome.
Explore research for Mast syndrome
Explore actively recruiting Mast syndrome studies with HealthSpark.
Find actively recruiting studies for Mast syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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