Living with Autosomal recessive spastic paraplegia type 71
A rare inherited condition with leg stiffness and a scissoring walk that begins in infancy.
Understanding Autosomal recessive spastic paraplegia type 71
Children have stiffness in the legs, overactive reflexes, and a scissoring walk. Brain scans show a thin corpus callosum, and nerve and muscle tests are normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiffness in the legs (spasticity)
- Scissoring, spastic walk
- Overactive reflexes
- Global developmental delay
- Mild intellectual disability
- Hand tremor
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 ZFR 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 ZFR gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: spg71
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 Autosomal recessive spastic paraplegia type 71.
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