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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed. Mutations in spastin impair the microtubules' ability to transport cell compartments (organelles), especially in nerve cells; researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Spastic paraplegia type 4?"},{"bodyHtml":"

Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spastic-paraplegia-type-4","sourceDocuments":[{"name":"Spastic paraplegia type 4","reviewed":"2020-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:07.964737+00:00","label":"Causes","pageSha256":"7852c4d6e51e2dcaf205d6cc982cb42141000aeef614871241dc5fc53f7bc807","sourceUrl":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Spastic paraplegia type 4"},"schemaVersion":1}