Overview
Autosomal recessive spastic paraplegia type 48 (SPG48) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which cause progressive stiffness (spasticity) and weakness in the legs. SPG48 is caused by mutations in the AP5Z1 gene, which plays a role in how cells sort and transport proteins internally. People with SPG48 typically develop difficulty walking due to increasing stiffness and weakness in the lower limbs. The condition usually begins in adulthood, though the age of onset can vary. In addition to leg spasticity, some individuals may experience urinary problems such as urgency or incontinence, mild cognitive changes, and sometimes thinning of the corpus callosum (the structure connecting the two halves of the brain). Some patients also develop problems with coordination (ataxia) or peripheral nerve damage. There is currently no cure for SPG48. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, medications to reduce muscle stiffness (such as baclofen or tizanidine), and assistive devices like walkers or wheelchairs can help people stay as mobile and independent as possible. Because the disease is so rare, research is still ongoing to better understand its progression and develop targeted therapies.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingLeg weaknessUrinary urgency or incontinenceBalance problemsCoordination difficulties (ataxia)Numbness or tingling in the feetMild memory or thinking difficultiesAbnormal reflexes in the legsFoot deformities such as high archesFatigue during physical activity
Clinical phenotype terms (19)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 48.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 48.
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 48.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
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 helpful for maintaining my mobility?,Are there medications that could help with my leg stiffness or bladder symptoms?,Should my family members be tested for the AP5Z1 gene mutation?,Are there any clinical trials or research studies I could participate in?,What assistive devices or home modifications should I consider now?,How often should I have follow-up neurological evaluations?
Common questions about Autosomal recessive spastic paraplegia type 48
What is Autosomal recessive spastic paraplegia type 48?
Autosomal recessive spastic paraplegia type 48 (SPG48) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which cause progressive stiffness (spasticity) and weakness in the legs. SPG48 is caused by mutations in the AP5Z1 gene, which plays a role in how cells sort and transport proteins internally. People with SPG48 typically develop difficulty walking due to increasing stiffness and weakness in the lower limbs. The condition usually begins in adulthood, tho
How is Autosomal recessive spastic paraplegia type 48 inherited?
Autosomal recessive spastic paraplegia type 48 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive spastic paraplegia type 48 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 48 is adult. Age of onset can vary across affected individuals.