Overview
Autosomal recessive spastic paraplegia type 62 (SPG62) 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 are characterized by progressive stiffness (spasticity) and weakness in the legs. SPG62 is caused by mutations in the ERLIN1 gene, which plays a role in maintaining healthy nerve cell function, particularly in the long nerve fibers that run from the brain down the spinal cord to the legs. People with SPG62 typically develop symptoms in childhood, though the age of onset can vary. The hallmark features include gradually worsening leg stiffness, difficulty walking, and exaggerated reflexes. Some individuals may also experience mild intellectual disability, thin corpus callosum (the structure connecting the two halves of the brain), or other neurological findings. The condition tends to progress slowly over time, and the severity can differ even among family members who carry the same genetic change. There is currently no cure for SPG62. 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. Ongoing research into hereditary spastic paraplegias may eventually lead to more targeted therapies.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingLeg weaknessExaggerated reflexes in the legsToe walking or abnormal gaitBalance problemsMuscle tightness in the lower limbsPossible mild intellectual disabilityPossible thinning of the corpus callosum on brain MRIFoot deformities such as high arches or curled toesBladder control difficultiesFatigue during physical activity
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 62.
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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 62.
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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 or my child's case?,What physical therapy program do you recommend, and how often should sessions occur?,Are there medications that could help with the leg stiffness, and what are the side effects?,Should we consider genetic counseling for our family, and what does carrier testing involve?,Are there any clinical trials or research studies we could participate in?,What assistive devices or home modifications should we plan for?,How often should follow-up appointments and imaging be scheduled?
Common questions about Autosomal recessive spastic paraplegia type 62
What is Autosomal recessive spastic paraplegia type 62?
Autosomal recessive spastic paraplegia type 62 (SPG62) 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 are characterized by progressive stiffness (spasticity) and weakness in the legs. SPG62 is caused by mutations in the ERLIN1 gene, which plays a role in maintaining healthy nerve cell function, particularly in the long nerve fibers that run from the brain down the spinal cord to the legs. People with SPG62 typically develop symptoms in childhood,
How is Autosomal recessive spastic paraplegia type 62 inherited?
Autosomal recessive spastic paraplegia type 62 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 62 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 62 is childhood. Age of onset can vary across affected individuals.