Overview
Autosomal dominant spastic paraplegia type 41 (also called SPG41) is a very rare inherited neurological condition that belongs to a group of disorders known as hereditary spastic paraplegias (HSPs). These conditions primarily affect the long nerve fibers (axons) in the spinal cord that control movement in the legs. As a result, people with SPG41 experience progressive stiffness (spasticity) and weakness in the legs, which gradually worsens over time. The condition is caused by changes in a specific 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. SPG41 typically begins in adolescence or early adulthood. The hallmark symptoms include increasing difficulty walking due to leg stiffness and weakness. Some individuals may also experience problems with bladder control and reduced sensation in the feet. The condition is classified as a "pure" form of spastic paraplegia, meaning it mainly affects the legs without widespread involvement of other body systems, although some variability can occur between individuals. There is currently no cure for SPG41. Treatment focuses on managing symptoms and maintaining mobility for as long as possible. Physical therapy, stretching exercises, and medications to reduce muscle spasticity (such as baclofen or tizanidine) are the main approaches. Assistive devices like braces, walkers, or wheelchairs may become necessary as the condition progresses. Research into hereditary spastic paraplegias is ongoing, and understanding the genetic basis of SPG41 may eventually lead to more targeted therapies.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Weakness in the legsDifficulty walkingIncreased muscle tone in the lower limbsExaggerated reflexes in the legsFoot drop or abnormal foot postureBalance problemsBladder control difficultiesReduced sensation in the feetFatigue in the legs after walkingMuscle cramps or spasms in the legs
Clinical phenotype terms (14)— 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 41.
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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 41.
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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 physical therapy program would be most beneficial for maintaining my mobility?,Are there any medications that could help with my leg stiffness, and what are the side effects?,Should other family members be tested for this genetic change?,Are there any clinical trials or research studies I could participate in?,When should I consider using assistive devices like braces or a walker?,What specialists should I see regularly, and how often?
Common questions about Autosomal dominant spastic paraplegia type 41
What is Autosomal dominant spastic paraplegia type 41?
Autosomal dominant spastic paraplegia type 41 (also called SPG41) is a very rare inherited neurological condition that belongs to a group of disorders known as hereditary spastic paraplegias (HSPs). These conditions primarily affect the long nerve fibers (axons) in the spinal cord that control movement in the legs. As a result, people with SPG41 experience progressive stiffness (spasticity) and weakness in the legs, which gradually worsens over time. The condition is caused by changes in a specific gene and follows an autosomal dominant inheritance pattern, meaning only one copy of the altered
How is Autosomal dominant spastic paraplegia type 41 inherited?
Autosomal dominant spastic paraplegia type 41 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.