Overview
Autosomal recessive spastic paraplegia type 43 (SPG43) is an extremely rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. In SPG43, the disease typically begins in childhood and gradually worsens over time. People with SPG43 experience increasing difficulty walking due to stiffness and weakness in the lower limbs. The condition may also be associated with additional features beyond leg spasticity, including thinning of the corpus callosum (the structure connecting the two halves of the brain), intellectual disability, and abnormalities of the hair or skin. These additional features can vary from person to person, even within the same family. There is currently no cure for SPG43. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, stretching exercises, and medications to reduce muscle stiffness (such as baclofen or tizanidine) are commonly used. Assistive devices like braces, walkers, or wheelchairs may become necessary as the disease progresses. Research into hereditary spastic paraplegias is ongoing, but specific therapies targeting the underlying cause of SPG43 are not yet available.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Weakness in the legsDifficulty walkingAbnormal gait patternThinning of the connection between brain halves (thin corpus callosum)Intellectual disability or learning difficultiesAbnormal hair texture or sparse hairSkin abnormalitiesIncreased muscle reflexes in the legsFoot deformities such as high arches or curled toesBalance problemsUrinary urgency or difficulty with bladder control
Clinical phenotype terms (17)— 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 43.
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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 43.
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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 could help with the leg stiffness, and what are the side effects?,Should we get brain MRI to check for iron accumulation or other brain changes related to C19orf12 mutations?,Are there any clinical trials or research studies we could participate in?,What genetic testing should other family members consider, especially for carrier status?,What support services are available for education, mobility, and daily living?
Common questions about Autosomal recessive spastic paraplegia type 43
What is Autosomal recessive spastic paraplegia type 43?
Autosomal recessive spastic paraplegia type 43 (SPG43) is an extremely rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. In SPG43, the disease typically begins in childhood and gradually worsens over time. People with SPG43 experience increasing difficulty walking due to stiffness and weakness in the lower limbs. The condition may also be associated with additional features beyon
How is Autosomal recessive spastic paraplegia type 43 inherited?
Autosomal recessive spastic paraplegia type 43 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 43 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 43 is childhood. Age of onset can vary across affected individuals.