Overview
Autosomal recessive spastic paraplegia type 44 (SPG44) is an extremely rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It belongs to a large group of disorders known as hereditary spastic paraplegias (HSPs), which share the hallmark feature of gradually worsening leg spasticity due to degeneration of the longest nerve fibers in the spinal cord. SPG44 is caused by mutations in the GJC2 gene, which provides instructions for making a protein called connexin-47. This protein is important for the formation of gap junctions — tiny channels that allow communication between cells in the brain and spinal cord, particularly in the cells that produce myelin, the protective coating around nerve fibers. When this protein does not work properly, myelin formation and maintenance are disrupted, leading to the neurological symptoms seen in this condition. Patients with SPG44 typically develop difficulty walking due to progressive leg stiffness and weakness, often beginning in childhood or adolescence. Additional features may include problems with coordination, mild cognitive difficulties, and abnormalities visible on brain MRI that suggest impaired white matter (myelin). There is currently no cure for SPG44, and treatment focuses on managing symptoms through physical therapy, medications to reduce spasticity, and supportive care to maintain mobility and quality of life for as long as possible.
Also known as:
Key symptoms:
Progressive stiffness in the legs (spasticity)Difficulty walking that worsens over timeLeg weaknessIncreased muscle tone in the lower limbsExaggerated reflexes in the legsProblems with balance and coordinationMild intellectual disability or learning difficulties in some casesAbnormal gait patternWhite matter abnormalities on brain MRIPossible upper limb involvement in later stagesFatigue during physical activityFoot deformities such as high arches or curled toes
Clinical phenotype terms (16)— 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 44.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive spastic paraplegia type 44 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 44.
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 44.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive spastic paraplegia type 44.
Start the conversation →Latest news about Autosomal recessive spastic paraplegia type 44
No recent news articles for Autosomal recessive spastic paraplegia type 44.
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.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 can help with the leg stiffness, and what are the side effects?,Should other family members be tested for carrier status?,Are there any clinical trials or research studies we could participate in?,What assistive devices or home modifications should we consider now or plan for in the future?,How should we monitor for any cognitive or learning difficulties?
Common questions about Autosomal recessive spastic paraplegia type 44
What is Autosomal recessive spastic paraplegia type 44?
Autosomal recessive spastic paraplegia type 44 (SPG44) is an extremely rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It belongs to a large group of disorders known as hereditary spastic paraplegias (HSPs), which share the hallmark feature of gradually worsening leg spasticity due to degeneration of the longest nerve fibers in the spinal cord. SPG44 is caused by mutations in the GJC2 gene, which provides instructions for making a protein called connexin-47. This protein is important for the formation of
How is Autosomal recessive spastic paraplegia type 44 inherited?
Autosomal recessive spastic paraplegia type 44 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 44 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 44 is childhood. Age of onset can vary across affected individuals.