Living with Hereditary sensory and autonomic neuropathy with spastic paraplegia
A rare inherited condition with nerve damage affecting sensation and stiff, weak legs.
Understanding Hereditary sensory and autonomic neuropathy with spastic paraplegia
It combines an axonal sensory and autonomic neuropathy (damage to nerves that carry feeling and control automatic body functions) with spastic paraplegia (stiff, tight muscles in the legs). It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, spastic leg muscles
- Trouble walking
- Reduced feeling in the hands and feet
- Reduced sense of pain
- Skin sores
- Muscle wasting in the hands and feet
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 CCT5 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 and The Foundation for Peripheral Neuropathy 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, The Foundation for Peripheral Neuropathy
- 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 CCT5 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive sensory neuropathy with spastic paraplegia; hsan with spastic paraplegia; hsnsp; mutilating hereditary sensory neuropathy with spastic paraplegia; mutilating hsan with spastic paraplegia
Patient organizations
- Spastic Paraplegia FoundationHereditary sensory and autonomic neuropathy with spastic paraplegia · 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 sensory and autonomic neuropathy with spastic paraplegia.
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