Living with Hereditary spastic paraplegia 75
A complex type of hereditary spastic paraplegia with early onset, balance and eye problems, and nerve damage.
Understanding Hereditary spastic paraplegia 75
It brings leg stiffness, poor balance, fast eye movements (nystagmus), nerve damage, and borderline to mild intellectual disability. Reduced or absent reflexes, mild arm involvement, and notable vision problems (optic atrophy, vision loss, astigmatism) have also been reported. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Delayed development
- Intellectual disability
- Fast eye movements (nystagmus)
- Vision problems such as astigmatism
- Poor coordination (dysmetria)
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 MAG 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 MAG 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 75; autosomal recessive spastic paraplegia type 75; hereditary spastic paraplegia caused by mutation in mag; hereditary spastic paraplegia type 75; mag hereditary spastic paraplegia; spastic paraplegia 75, autosomal recessive
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 75.
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