Hereditary spastic paraplegia

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Hereditary Spastic Paraplegia

Hereditary Spastic Paraplegia (HSP), pronounced as /hɪˈrɛdɪtəri spæstɪk pærəˈpliːʒə/, is a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs.

Etymology

The term "Hereditary Spastic Paraplegia" is derived from the following roots: "Hereditary" comes from the Latin word "hereditas" meaning inheritance, "Spastic" is derived from the Greek word "spastikos" meaning drawing in or tugging, and "Paraplegia" comes from the Greek words "para" meaning beside and "plegia" meaning stroke or paralysis.

Definition

Hereditary Spastic Paraplegia (HSP) is a term for a group of inherited disorders that cause weakness and stiffness in the leg muscles. This condition is progressive, meaning it tends to worsen over time.

Symptoms

Symptoms of HSP can vary greatly in severity and in the age at which they appear. Common symptoms include progressive spasticity and weakness in the legs, abnormal gait, and, in some cases, bladder problems.

Causes

HSP is caused by mutations in specific genes. These genetic mutations cause degeneration of the long nerves that connect the brain to the legs, leading to the characteristic symptoms of the disorder.

Diagnosis

Diagnosis of HSP is based on clinical examination, family history, and genetic testing. Neuroimaging and electrophysiological studies may also be used to support the diagnosis.

Treatment

There is currently no cure for HSP, but treatments are available to help manage symptoms. These may include physical therapy, medication to manage spasticity, and in some cases, surgery.

Related Terms

External links

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