Living with Hereditary spastic paraplegia 35
A rare nervous system condition starting in childhood, with leg then arm stiffness, speech and breathing issues, and iron buildup in the brain.
Understanding Hereditary spastic paraplegia 35
Stiffness and brisk reflexes start in the legs and then the arms. It usually starts in childhood, but can start in the teens. Other symptoms include breathing and speech problems and involuntary muscle contractions. Some people have mild decline in thinking skills, loss of optic nerve function, and seizures. Brain scans show white matter changes and iron buildup.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff muscles (spasticity)
- Trouble walking and frequent falls
- Speech trouble (dysarthria)
- Muscle contractions that twist the body (dystonia)
- Intellectual disability
- Loss of thinking skills
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 FA2H 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
It is caused by changes in the FA2H gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; fa2h hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in fa2h; hereditary spastic paraplegia type 35; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia
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 Hereditary spastic paraplegia 35.
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