Overview
Autosomal recessive spastic paraplegia type 46 (SPG46) is a very rare inherited neurological condition that primarily affects the nervous system, especially the nerves that control movement in 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. SPG46 is caused by mutations in the GBA2 gene, which plays a role in the breakdown of certain fats (lipids) in the body. People with SPG46 typically begin showing symptoms in childhood or adolescence, though the age of onset can vary. The hallmark feature is gradually worsening leg stiffness and difficulty walking. Many individuals also experience intellectual disability or cognitive difficulties, thinning of the corpus callosum (the structure connecting the two halves of the brain), cataracts, and cerebellar ataxia (problems with coordination and balance). Some patients may also develop peripheral neuropathy, which causes numbness or tingling in the hands and feet. There is currently no cure for SPG46. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and assistive devices such as braces or walkers can help with mobility. Medications that reduce muscle spasticity, such as baclofen or tizanidine, may be prescribed. Regular follow-up with a multidisciplinary team of specialists is important to address the various aspects of this condition as it progresses.
Also known as:
Key symptoms:
Progressive leg stiffness and spasticityDifficulty walking that worsens over timeIntellectual disability or learning difficultiesProblems with balance and coordination (ataxia)Cataracts or other eye problemsThinning of the corpus callosum in the brainNumbness or tingling in hands and feet (peripheral neuropathy)Muscle weakness in the legsSpeech difficultiesAbnormal brain white matter on MRIUrinary urgency or incontinenceFoot deformities such as high arches or curled toes
Clinical phenotype terms (33)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 46.
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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 recessive spastic paraplegia type 46.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected rate of progression for my or my child's specific case?,What physical therapy and rehabilitation programs do you recommend?,Should we have genetic counseling for family planning purposes?,Are there any clinical trials or research studies we could participate in?,How often should we schedule eye exams to monitor for cataracts?,What medications can help with spasticity, and what are their side effects?,What educational or developmental support services should we look into?
Common questions about Autosomal recessive spastic paraplegia type 46
What is Autosomal recessive spastic paraplegia type 46?
Autosomal recessive spastic paraplegia type 46 (SPG46) is a very rare inherited neurological condition that primarily affects the nervous system, especially the nerves that control movement in 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. SPG46 is caused by mutations in the GBA2 gene, which plays a role in the breakdown of certain fats (lipids) in the body. People with SPG46 typically begin showing symptoms in childhood or adolescence, though the age of o
How is Autosomal recessive spastic paraplegia type 46 inherited?
Autosomal recessive spastic paraplegia type 46 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.