Overview
Autosomal recessive spastic paraplegia type 61 (SPG61) is an extremely rare inherited neurological condition that primarily affects the nerves controlling 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. SPG61 is caused by mutations in the ARL6IP1 gene, which plays a role in shaping a part of the cell called the endoplasmic reticulum — a structure important for many cell functions, especially in nerve cells. People with SPG61 typically develop symptoms in early childhood. The hallmark features include progressive leg stiffness and difficulty walking, which worsen over time. Many affected individuals also experience additional neurological problems such as intellectual disability, thinning of the corpus callosum (the structure connecting the two halves of the brain), and peripheral neuropathy (damage to nerves outside the brain and spinal cord), which can cause numbness or tingling in the hands and feet. Some patients may also develop skin abnormalities. There is currently no cure for SPG61. Treatment is supportive and focuses on managing symptoms. Physical therapy, stretching exercises, and anti-spasticity medications such as baclofen or tizanidine can help manage muscle stiffness. Orthopedic devices like braces or walkers may assist with mobility. Because the condition is so rare, research is limited, and management is guided by experience with other forms of hereditary spastic paraplegia.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingWeakness in the legsIntellectual disabilityNumbness or tingling in hands and feetThinning of the connection between brain halves (thin corpus callosum)Exaggerated reflexes in the legsFoot deformities such as high arches or curled toesDifficulty with fine motor skillsSkin changes or abnormalitiesBladder control problemsBalance difficulties
Clinical phenotype terms (8)— 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 61.
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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 61.
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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.What is the expected rate of progression for my child's condition?,What physical therapy program would be most beneficial?,Are there any medications that could help with the leg stiffness?,Should we consider genetic counseling for our family regarding future pregnancies?,Are there any clinical trials or research studies we could participate in?,What educational supports should we put in place at school?,How often should we schedule follow-up appointments with neurology and other specialists?
Common questions about Autosomal recessive spastic paraplegia type 61
What is Autosomal recessive spastic paraplegia type 61?
Autosomal recessive spastic paraplegia type 61 (SPG61) is an extremely rare inherited neurological condition that primarily affects the nerves controlling 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. SPG61 is caused by mutations in the ARL6IP1 gene, which plays a role in shaping a part of the cell called the endoplasmic reticulum — a structure important for many cell functions, especially in nerve cells. People with SPG61 typically develop sy
How is Autosomal recessive spastic paraplegia type 61 inherited?
Autosomal recessive spastic paraplegia type 61 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 61 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 61 is childhood. Age of onset can vary across affected individuals.