SNP Shot: Genomic Insights

Spastic paraplegia type 5A belongs to a family of inherited conditions called hereditary spastic paraplegias. These disorders primarily cause muscle stiffness (spasticity) and significant weakness (paraplegia) in the legs. Hereditary spastic paraplegias are broadly classified as either pure or complex. Pure forms mainly affect the legs with spasticity and weakness, while complex forms involve additional complications impacting other bodily functions. These additional features in complex forms can include vision problems, cognitive impairment, brain abnormalities, and nerve damage (neuropathy). Spastic paraplegia type 5A is generally considered a pure hereditary spastic paraplegia, although some individuals, particularly those with long-standing disease, may develop complex features.

Besides spasticity and weakness, individuals with spastic paraplegia type 5A may experience impaired position sense in their legs, difficulty feeling vibrations in their lower limbs, muscle atrophy (amyotrophy), bladder control issues, and high-arched feet (pes cavus). Symptoms typically begin during adolescence but can emerge anytime from infancy to middle age. The condition progresses slowly, often necessitating the use of mobility aids like walkers or wheelchairs.

Inheritance:

Spastic paraplegia type 5A is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who each carry only one copy of the mutated gene usually do not exhibit any signs or symptoms of the disorder.