Strumpell–Lorrain disease

A hereditary spastic paraplegia

Strumpell–Lorrain disease
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Synonyms	Hereditary spastic paraplegia (HSP)
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive spasticity and weakness of the lower limbs
Complications	N/A
Onset	Variable, often in childhood or early adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, physical therapy
Medication	N/A
Prognosis	Variable, generally progressive
Frequency	N/A
Deaths	N/A

Strumpell–Lorrain disease, also known as hereditary spastic paraplegia (HSP), is a group of inherited disorders characterized by progressive spasticity and weakness of the lower limbs. The condition is named after the neurologists Adolf von Strümpell and Maurice Lorrain, who first described the disease in the late 19th and early 20th centuries.

Clinical Presentation

The hallmark of Strumpell–Lorrain disease is progressive spasticity, which refers to increased muscle tone and stiffness, particularly affecting the lower extremities. This leads to difficulty with walking and balance. Patients may also experience muscle weakness, urinary urgency, and in some cases, mild sensory disturbances.

The age of onset can vary widely, from early childhood to late adulthood, and the rate of progression is also variable. Some individuals may experience a slow progression over many years, while others may have a more rapid decline in function.

Genetics

Strumpell–Lorrain disease is genetically heterogeneous, meaning it can be caused by mutations in different genes. It is most commonly inherited in an autosomal dominant manner, but autosomal recessive and X-linked forms also exist. Over 80 different genetic loci have been associated with HSP, with mutations in the SPG4 gene (encoding the protein spastin) being the most common cause.

Diagnosis

Diagnosis of Strumpell–Lorrain disease is primarily clinical, based on the characteristic symptoms and family history. Genetic testing can confirm the diagnosis by identifying mutations in known HSP-related genes. Magnetic resonance imaging (MRI) of the brain and spinal cord may be performed to rule out other causes of spasticity.

Management

There is currently no cure for Strumpell–Lorrain disease, and treatment is focused on managing symptoms and improving quality of life. Physical therapy and occupational therapy are essential components of care, helping to maintain mobility and function. Medications such as baclofen or tizanidine may be used to reduce spasticity. In some cases, botulinum toxin injections or intrathecal baclofen pumps may be considered.

Prognosis

The prognosis for individuals with Strumpell–Lorrain disease varies depending on the specific genetic mutation and the severity of symptoms. While the condition is generally progressive, many individuals maintain a good quality of life with appropriate management.

Also see

• Spasticity
• Neurology
• Genetic disorders
• Physical therapy

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WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

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