Spastic paraplegia type 3, dominant

Spastic paraplegia type 3, dominant
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive spasticity and weakness of the lower limbs
Complications	N/A
Onset	Variable, often in adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the ATL1 gene
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, physical therapy
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Spastic paraplegia type 3, dominant (SPG3A) is a form of hereditary spastic paraplegia (HSP), a group of inherited disorders characterized by progressive weakness and spasticity of the lower limbs. SPG3A is one of the most common early-onset forms of HSP and is caused by mutations in the ATL1 gene.

Clinical Features

Individuals with SPG3A typically present with progressive spasticity and weakness in the lower limbs. The age of onset can vary widely, but symptoms often begin in childhood or early adulthood. The severity of the condition can also vary, with some individuals experiencing mild symptoms and others having significant disability.

Genetics

SPG3A is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder. The ATL1 gene, located on chromosome 14q22.1, encodes a protein involved in the maintenance of the endoplasmic reticulum network. Mutations in this gene disrupt normal neuronal function, leading to the symptoms of SPG3A.

Diagnosis

Diagnosis of SPG3A is based on clinical evaluation and genetic testing. A detailed family history can help identify the pattern of inheritance. Genetic testing can confirm the presence of mutations in the ATL1 gene.

Management

There is currently no cure for SPG3A. Treatment is focused on managing symptoms and improving quality of life. Physical therapy can help maintain mobility and reduce spasticity. Medications such as baclofen or tizanidine may be used to manage spasticity. Assistive devices, such as braces or walkers, may be necessary for some individuals.

Prognosis

The prognosis for individuals with SPG3A varies. Some individuals may experience only mild symptoms, while others may develop significant disability. The progression of the disease is generally slow, and life expectancy is typically not affected.

Also see

• Hereditary spastic paraplegia
• Atlastin GTPase 1
• Autosomal dominant inheritance
• Spasticity