Overview
Autosomal recessive spastic paraplegia type 67 (SPG67) is an extremely rare inherited neurological condition that primarily affects the nervous system, leading to progressive stiffness and weakness in the legs. It is also known as hereditary spastic paraplegia type 67 or SPG67. This disease belongs to a large group of disorders called hereditary spastic paraplegias (HSPs), which all share the hallmark feature of gradually increasing muscle stiffness (spasticity) in the lower limbs. SPG67 is caused by mutations in the PGAP1 gene, which plays an important role in how certain proteins are processed and attached to the surface of cells. When this gene does not work properly, nerve cells — especially the long nerve fibers that control leg movement — can become damaged over time. People with SPG67 typically develop symptoms in early childhood, including difficulty walking, stiff legs, and sometimes intellectual disability or developmental delays. Some individuals may also experience seizures or problems with speech. There is currently no cure for SPG67. Treatment focuses on managing symptoms and improving quality of life. Physical therapy, medications to reduce muscle stiffness (such as baclofen or tizanidine), and assistive devices like braces or walkers are commonly used. Ongoing research into hereditary spastic paraplegias may eventually lead to more targeted therapies, but for now, supportive care remains the standard approach.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walking or abnormal gaitMuscle weakness in the legsIntellectual disabilityDelayed developmental milestonesSpeech difficultiesSeizuresIncreased muscle reflexesBalance problemsFoot deformities such as high arches or curled toesDifficulty with fine motor skillsThin or wasted leg muscles over time
Clinical phenotype terms (15)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 67.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive spastic paraplegia type 67 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 67.
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 67.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive spastic paraplegia type 67.
Start the conversation →Latest news about Autosomal recessive spastic paraplegia type 67
No recent news articles for Autosomal recessive spastic paraplegia type 67.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 progression of symptoms for my child or family member?,What therapies are most important to start right away?,Are there any clinical trials or research studies we could participate in?,How often should we schedule follow-up visits with the neurologist?,What medications can help with muscle stiffness, and what are their side effects?,Should other family members be tested to see if they are carriers?,What school or workplace accommodations should we request?
Common questions about Autosomal recessive spastic paraplegia type 67
What is Autosomal recessive spastic paraplegia type 67?
Autosomal recessive spastic paraplegia type 67 (SPG67) is an extremely rare inherited neurological condition that primarily affects the nervous system, leading to progressive stiffness and weakness in the legs. It is also known as hereditary spastic paraplegia type 67 or SPG67. This disease belongs to a large group of disorders called hereditary spastic paraplegias (HSPs), which all share the hallmark feature of gradually increasing muscle stiffness (spasticity) in the lower limbs. SPG67 is caused by mutations in the PGAP1 gene, which plays an important role in how certain proteins are proces
How is Autosomal recessive spastic paraplegia type 67 inherited?
Autosomal recessive spastic paraplegia type 67 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 67 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 67 is infantile. Age of onset can vary across affected individuals.