Overview
Autosomal dominant spastic paraplegia type 36 (SPG36) is a very rare inherited neurological condition that primarily affects the nerves controlling the legs. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the lower limbs. SPG36 is caused by mutations in the SPG36 gene and follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene from one parent is enough to cause the disease. People with SPG36 typically develop gradually worsening stiffness and difficulty walking. The condition may also involve sensory nerve problems, meaning some patients experience numbness, tingling, or reduced sensation in the feet and legs. This combination of motor and sensory nerve involvement means SPG36 can sometimes be classified as a complicated form of hereditary spastic paraplegia. The age when symptoms first appear can vary, but onset is often in adulthood. There is currently no cure for SPG36. Treatment focuses on managing symptoms and maintaining mobility for as long as possible. Physical therapy, stretching exercises, and medications to reduce muscle stiffness (such as baclofen or tizanidine) are commonly used. Assistive devices like braces, walkers, or wheelchairs may become necessary as the disease progresses. Research into hereditary spastic paraplegias is ongoing, and genetic understanding of these conditions continues to improve.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingLeg weaknessNumbness or tingling in the feet and legsReduced sensation in the lower limbsMuscle cramps or spasms in the legsBalance problemsIncreased muscle tone in the legsFoot deformities such as high archesFatigue during walking or standingUrinary urgency or frequency
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant spastic paraplegia type 36.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal dominant spastic paraplegia type 36.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How quickly is this condition likely to progress in my case?,What medications or therapies can help manage my stiffness and walking difficulties?,Should my family members be tested for this genetic condition?,Are there any clinical trials or research studies I could participate in?,What types of physical therapy are most helpful for hereditary spastic paraplegia?,When should I consider using assistive devices like braces or a walker?,Are there any complications I should watch for as the disease progresses?
Common questions about Autosomal dominant spastic paraplegia type 36
What is Autosomal dominant spastic paraplegia type 36?
Autosomal dominant spastic paraplegia type 36 (SPG36) is a very rare inherited neurological condition that primarily affects the nerves controlling the legs. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the lower limbs. SPG36 is caused by mutations in the SPG36 gene and follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene from one parent is enough to cause the disease. People with SPG36 typically develop gradually worsening stiffness and dif
How is Autosomal dominant spastic paraplegia type 36 inherited?
Autosomal dominant spastic paraplegia type 36 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.