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Hereditary spastic paraplegia
1Department of Orthopaedics and Rehabilitation, Vanderbilt University Medical Center, Nashville, TN 37232.
Insights
Hereditary spastic paraplegia, a genetic disorder, often presents as slowly progressing leg weakness and can be misdiagnosed. Early recognition through family history is crucial for effective management and treatment planning.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders.
- It is typically autosomal dominant and characterized by progressive spasticity and weakness in the legs.
- HSP is often misdiagnosed, particularly in children, as cerebral palsy.
Abstract:
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. Our experience consists of six families with a total of 26 affected members. All initial referrals were children with a slowly progressive paraplegia. Each child was noted to have slightly delayed motor milestones, normal intellect, and no history of perinatal cerebral event. Each child was treated when necessary with appropriate tendon lengthenings. Recognition is the key to management. A careful patient and family history will reveal the hereditary nature of the disease and help develop treatment plans.