Living with Hereditary spastic paraplegia 77
A pure or complex type of hereditary spastic paraplegia starting in infancy or childhood, with delayed milestones.
Understanding Hereditary spastic paraplegia 77
Leg stiffness worsens slowly, with delayed motor milestones, walking changes, and brisk reflexes. People may have weakness, low muscle tone, an intention tremor, and muscle wasting. Eye differences such as crossed eyes and drooping lids, slurred speech, and seizures may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Scissors-like walk
- Delayed development
- Speech trouble (dysarthria)
- Seizures
- Tremor with purposeful movement
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 FARS2 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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 and other patient organizations
- 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 FARS2 gene. It can be autosomal recessive or mitochondrial in how it is passed on.
Also known as: autosomal recessive spastic paraplegia 77; autosomal recessive spastic paraplegia type 77; fars2 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in fars2; hereditary spastic paraplegia type 77; spastic paraplegia 77, autosomal recessive
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 77 · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 77.
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