Hereditary Spastic Paraplegia
What is it?
Hereditary spastic paraplegia refers to a group of inherited diseases that cause weakness and stiffness in the leg msucles. These diseases share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease.
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Signs & symptoms
Symptoms may include lower limb weakness and muscle stiffness. Severity and progression of the symptoms varies from person to person. Other symptoms may include difficulty urinating and lack of sensation in the feet.
Diagnosis
Diagnosis of hereditary spastic paraplegia include medical history, physical exminations and tests such as MRI scans, CSF analysis and nerve conduction stuides. In some cases, genetic testing will be done.
Treatment
There is no cure for hereditary spastic paraplegia but the treatment focuses on relieving the symptoms. Treatment may include physiotherapy, muscle relaxants, occupational therapy, ankle-foot orthosis and sometimes surgery to release tendons or shortened muscles.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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