SPG4
SPG4 (Spastic Paraplegia 4) is a form of Hereditary Spastic Paraplegia (HSP) that is characterized by progressive weakness and spasticity (stiffness) of the legs. SPG4 is the most common form of HSP and is typically inherited in an autosomal dominant manner.
Symptoms[edit | edit source]
The primary symptom of SPG4 is progressive spasticity and weakness of the legs. This typically begins in early adulthood, but can start in childhood or later in life. Other symptoms can include urinary urgency and mild impairment of vibration sense in the lower limbs. In some cases, individuals with SPG4 may also experience a mild decrease in mental function.
Genetics[edit | edit source]
SPG4 is caused by mutations in the SPAST gene, which provides instructions for producing a protein called spastin. This protein is involved in the assembly, maintenance, and function of the cytoskeleton, the structural framework that helps cells maintain their shape and internal organization.
Diagnosis[edit | edit source]
Diagnosis of SPG4 is based on the presence of characteristic symptoms, a family history of the condition, and genetic testing. Magnetic Resonance Imaging (MRI) may also be used to rule out other conditions that can cause similar symptoms.
Treatment[edit | edit source]
There is currently no cure for SPG4. Treatment is focused on managing symptoms and can include physical therapy, medications to manage spasticity, and assistive devices such as canes or walkers.
See also[edit | edit source]
| SPG4 Resources | |
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NIH genetic and rare disease info[edit source]
SPG4 is a rare disease.
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