Autosomal dominant spastic paraplegia type 36

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ORPHA:320365OMIM:613096G11.4
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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
Impaired distal proprioceptionHP:0006858Impaired distal vibration sensationHP:0006886Impaired distal tactile sensationHP:0006937Demyelinating motor neuropathyHP:0007220Impaired temperature sensationHP:0010829Demyelinating sensory neuropathyHP:0011402Abnormal brainstem MRI signal intensityHP:0012747
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal dominant spastic paraplegia type 36.

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No actively recruiting trials found for Autosomal dominant spastic paraplegia type 36 at this time.

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No specialists are currently listed for Autosomal dominant spastic paraplegia type 36.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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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Community

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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.