Spastic paraplegia type 4, dominant

Spastic paraplegia type 4, dominant
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive lower limb spasticity, weakness
Complications	N/A
Onset	Childhood to adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SPAST gene
Risks	N/A
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	N/A
Prevention	N/A
Treatment	Physical therapy, medications
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Spastic paraplegia type 4, dominant (SPG4) is a form of hereditary spastic paraplegia (HSP), a group of inherited disorders characterized by progressive weakness and spasticity of the lower limbs. SPG4 is the most common form of autosomal dominant HSP, accounting for approximately 40% of all cases.

Genetics

SPG4 is caused by mutations in the SPAST gene, which is located on chromosome 2p22.3. The SPAST gene encodes the protein spastin, which is involved in microtubule dynamics. Mutations in this gene lead to dysfunction in axonal transport and maintenance, resulting in the degeneration of corticospinal tract neurons.

The inheritance pattern of SPG4 is autosomal dominant, meaning that a single copy of the mutated gene is sufficient to cause the disorder. This pattern also implies that an affected individual has a 50% chance of passing the mutation to each offspring.

Clinical Features

The primary symptoms of SPG4 include:

• Progressive spasticity and weakness of the lower limbs
• Hyperreflexia
• Muscle stiffness
• Gait abnormalities

The age of onset can vary widely, from childhood to adulthood, and the severity of symptoms can also differ among individuals. Some patients may experience mild symptoms and remain ambulatory, while others may require assistive devices for mobility.

Diagnosis

Diagnosis of SPG4 is based on clinical evaluation and confirmed by genetic testing. A detailed family history can provide clues to the hereditary nature of the disorder. Neuroimaging, such as MRI, may be used to rule out other causes of spasticity.

Management

There is currently no cure for SPG4, but treatment focuses on managing symptoms and improving quality of life. Management strategies include:

• Physical therapy to maintain mobility and reduce spasticity
• Medications such as baclofen or tizanidine to manage spasticity
• Orthopedic interventions if necessary

Prognosis

The prognosis for individuals with SPG4 is variable. While the condition is progressive, many individuals maintain a good quality of life with appropriate management. The rate of progression and severity of symptoms can vary significantly.

Research

Ongoing research is focused on understanding the molecular mechanisms of SPG4 and developing potential therapies. Advances in genetic research and neurobiology may offer new insights into treatment options in the future.

Also see

• Hereditary spastic paraplegia
• Autosomal dominant inheritance
• Neurodegenerative disorders

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External links

• Comprehensive information from the National Institute of health.
  

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