Living with Hereditary spastic paraplegia 73
A pure type of hereditary spastic paraplegia starting in adulthood, with leg stiffness and mild bladder problems.
Understanding Hereditary spastic paraplegia 73
It causes stiff, weak legs, brisk reflexes, weakness in the upper legs, mild muscle wasting, reduced vibration sense at the ankles, and mild bladder problems. Some people eventually develop foot differences. Brain MRI and nerve conduction tests show no abnormalities.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Spastic walk
- Leg weakness
- Wasting of lower leg muscles
- Loss of bladder control or urgency
- 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 CPT1C 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 CPT1C gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: autosomal dominant pure spastic paraplegia caused by mutation in cpt1c; autosomal dominant spastic paraplegia 73; autosomal dominant spastic paraplegia type 73; cpt1c autosomal dominant pure spastic paraplegia; hereditary spastic paraplegia type 73; spastic paraplegia 73, autosomal dominant
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 73.
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