Living with Hereditary spastic paraplegia 27
A type of hereditary spastic paraplegia with slowly worsening leg stiffness, pure or complex, starting in the teens or adulthood.
Understanding Hereditary spastic paraplegia 27
Leg stiffness gets worse slowly and comes with brisk reflexes. Some people also have nerve damage, reduced vibration sense, muscle wasting in the lower legs, speech trouble, and mild to moderate intellectual disability. It starts in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spastic paraplegia)
- Brisk reflexes in the legs
- Reduced vibration sense at the ankles
- Overactive bladder
- Speech trouble, less often
- Hearing loss, less often
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 27; autosomal recessive spastic paraplegia type 27; hereditary spastic paraplegia type 27; spastic paraplegia 27, autosomal recessive; spg27
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 27.
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