Living with Hereditary spastic paraplegia 49
A rare nerve condition starting in infancy, with low muscle tone that becomes leg stiffness, plus reduced pain sense and breathing infections.
Understanding Hereditary spastic paraplegia 49
Babies have low muscle tone that turns into leg weakness and stiffness. Other features include absent reflexes, reduced pain and temperature sense, damage to nerves that control automatic body functions, acid reflux, repeated pneumonia and breathing problems, and intellectual disability. A small head, short neck, and coarse facial features are also described. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Absent reflexes
- Delayed development
- Intellectual disability
- Repeated breathing infections
- Short stature
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 TECPR2 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 TECPR2 gene, which normally helps the body break down and recycle unneeded cells. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 49; autosomal recessive spastic paraplegia type 49; hereditary sensory and autonomic neuropathy due to tecpr2 mutation; hereditary spastic paraplegia caused by mutation in tecpr2; hereditary spastic paraplegia type 49; hsan due to tecpr2 mutation
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 49 · 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 49.
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