Living with Hereditary spastic paraplegia 55
A rare, complex type of hereditary spastic paraplegia starting in childhood, with vision loss from optic nerve damage.
Understanding Hereditary spastic paraplegia 55
It combines worsening leg stiffness with optic atrophy (damage to the nerve of the eye, with reduced sharpness of vision), trouble moving the eyes, reduced arm strength and dexterity, wasting of leg muscles, and nerve damage affecting feeling and movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Optic nerve damage
- Reduced sharpness of vision
- Weak arms and poor hand coordination
- Foot drop
- Clubfoot
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MTRFR 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); Eye disease specialists (ophthalmologists); 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 MTRFR (C12ORF65) gene. It can be autosomal recessive or mitochondrial in how it is passed on.
Also known as: autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55; hereditary spastic paraplegia type 55; spastic paraplegia 55, autosomal recessive; spg55
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 55 · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 55.
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