Hereditary spastic paraplegia

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Hereditary spastic paraplegia
Synonyms	Familial spastic paraplegias, Strümpell-Lorrain syndrome
Pronounce
Specialty	Neurology
Symptoms	Progressive spasticity and weakness of the lower limbs
Complications	N/A
Onset	Varies, often in childhood or adulthood
Duration	Lifelong
Types	Pure and complex forms
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical examination
Differential diagnosis	Multiple sclerosis, cerebral palsy, amyotrophic lateral sclerosis
Prevention	N/A
Treatment	Physical therapy, medications for spasticity
Medication	Baclofen, tizanidine
Prognosis	N/A
Frequency	1 in 10,000 to 1 in 20,000 people
Deaths	Rarely directly fatal

Hereditary Spastic Paraplegia (HSP) is a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs.

Symptoms

The primary symptom of HSP is progressive spasticity in the lower limbs, due to degeneration of the nerves that control muscle movement. Other symptoms can include general weakness, muscle spasms, and difficulties with balance and coordination. Some forms of HSP can also affect the upper body, causing symptoms such as numbness, tingling, or pain in the arms and hands.

Causes

HSP is caused by mutations in various genes. The different types of HSP are classified according to the genetic cause. The most common types of HSP are caused by mutations in the SPG4, SPG3A, and SPG31 genes.

Diagnosis

Diagnosis of HSP is based on the presence of characteristic clinical features and a family history of the disorder. Genetic testing can confirm the diagnosis in some cases.

Treatment

There is currently no cure for HSP, but treatment can help to manage symptoms. This can include physical therapy, occupational therapy, and medication to manage spasticity and other symptoms.

See also

• Neurology
• Genetics
• Physical therapy