Living with Maternally-inherited spastic paraplegia
A rare inherited condition with slowly worsening leg stiffness and weakness that starts in adulthood.
Understanding Maternally-inherited spastic paraplegia
It starts in adulthood. It mainly affects the lower limbs on both sides, with stiffness, weakness of the lower legs and feet, and leg pain. Nerve tests often show nerve damage (axonal neuropathy).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg stiffness (spasticity)
- Weakness in the lower legs and feet
- Trouble walking
- Leg pain
- Brisk reflexes
- Reduced vibration sense in the legs
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 MT-ATP6 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 MT-ATP6 gene cause this condition. This gene is in mitochondrial DNA, which is passed from mother to children.
Also known as: maternally-inherited spg; mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial spastic paraplegia; mt-atp6-related mitochondrial spastic paraplegia
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 Maternally-inherited spastic paraplegia.
Explore research for Maternally-inherited spastic paraplegia
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