Overview
Autosomal recessive spastic paraplegia type 54 (SPG54) is a very rare inherited neurological condition that primarily affects the nervous system, especially the parts of the brain and spinal cord that control movement. It is caused by changes (mutations) in the DDHD2 gene. This gene plays an important role in how the body handles certain fats (lipids) in the brain. When this gene does not work properly, fatty substances can build up in the brain, leading to damage over time. Children with SPG54 typically show signs early in life, often in infancy or early childhood. The hallmark feature is progressive stiffness and weakness in the legs (spastic paraplegia), which makes walking difficult or impossible. Many affected children also have intellectual disability, which can range from mild to severe. Other common features include delayed development of motor skills like sitting and walking, speech difficulties, and sometimes seizures. Brain MRI scans often show a characteristic pattern of abnormal signals in the white matter of the brain and a thin corpus callosum (the structure connecting the two halves of the brain). There is currently no cure for SPG54. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain mobility and reduce stiffness, medications to manage spasticity and seizures, and speech therapy. Occupational therapy and educational support are also important parts of care. Research into this condition is ongoing, but because it is extremely rare, progress can be slow.
Also known as:
Key symptoms:
Progressive leg stiffness and spasticityDifficulty walking or inability to walkIntellectual disabilityDelayed motor milestones (sitting, crawling, walking)Speech and language delaysSeizures or epilepsyThin corpus callosum on brain MRIWhite matter abnormalities in the brainPoor coordinationDifficulty with fine motor skillsAbnormal eye movementsDroolingDifficulty swallowing in some cases
Clinical phenotype terms (16)— 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 54.
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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 54.
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Caregiver Resources
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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 severe is my child's condition compared to other known cases of SPG54?,What therapies should we start right away, and how often should they occur?,Are there any medications that could help with my child's stiffness or seizures?,What should I watch for that would require emergency medical attention?,Is there any research or clinical trial we could participate in?,Should other family members be tested to see if they are carriers?,What educational and developmental support services should we seek for my child?
Common questions about Autosomal recessive spastic paraplegia type 54
What is Autosomal recessive spastic paraplegia type 54?
Autosomal recessive spastic paraplegia type 54 (SPG54) is a very rare inherited neurological condition that primarily affects the nervous system, especially the parts of the brain and spinal cord that control movement. It is caused by changes (mutations) in the DDHD2 gene. This gene plays an important role in how the body handles certain fats (lipids) in the brain. When this gene does not work properly, fatty substances can build up in the brain, leading to damage over time. Children with SPG54 typically show signs early in life, often in infancy or early childhood. The hallmark feature is pr
How is Autosomal recessive spastic paraplegia type 54 inherited?
Autosomal recessive spastic paraplegia type 54 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 54 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 54 is infantile. Age of onset can vary across affected individuals.