Overview
Autosomal recessive spastic paraplegia type 75 (SPG75) 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 SPG75 or hereditary spastic paraplegia type 75. The disease is caused by changes (mutations) in the MAG gene, which provides instructions for making a protein called myelin-associated glycoprotein. This protein plays an important role in maintaining the health of the protective covering (myelin) around nerve fibers. When this protein does not work properly, the nerve fibers that control movement gradually deteriorate. People with SPG75 typically develop progressive spasticity (stiffness) in the lower limbs, which makes walking increasingly difficult over time. Additional features may include intellectual disability, problems with coordination (cerebellar ataxia), and abnormalities visible on brain MRI scans. The condition usually begins in childhood, though the exact age of onset can vary. Because SPG75 is so rare, there is currently no specific cure or disease-modifying treatment. Management focuses on relieving symptoms and maintaining quality of life. This includes physical therapy to manage spasticity, medications to reduce muscle stiffness, and supportive care from a team of specialists. Research into hereditary spastic paraplegias is ongoing, and understanding of this condition continues to grow.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walking that worsens over timeWeakness in the legsIntellectual disabilityProblems with balance and coordinationAbnormal brain MRI findingsIncreased muscle tone in the lower limbsExaggerated reflexesDifficulty with fine motor skillsSpeech difficulties
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 75.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 75.
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 75.
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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.How quickly is this condition likely to progress in my child's case?,What therapies should we start right away to maintain mobility?,Are there any clinical trials or research studies we could participate in?,What medications can help with the muscle stiffness, and what are the side effects?,What educational and developmental support services should we arrange?,How often should we schedule follow-up appointments and MRI scans?,Should other family members be tested to see if they are carriers?
Common questions about Autosomal recessive spastic paraplegia type 75
What is Autosomal recessive spastic paraplegia type 75?
Autosomal recessive spastic paraplegia type 75 (SPG75) 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 SPG75 or hereditary spastic paraplegia type 75. The disease is caused by changes (mutations) in the MAG gene, which provides instructions for making a protein called myelin-associated glycoprotein. This protein plays an important role in maintaining the health of the protective covering (myelin) around nerve fibers. When this protein does not work properly, the nerve
How is Autosomal recessive spastic paraplegia type 75 inherited?
Autosomal recessive spastic paraplegia type 75 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 75 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 75 is childhood. Age of onset can vary across affected individuals.