Spastic paraplegia type 5A, recessive

Spastic paraplegia type 5A, recessive
[[File:|250px|]]
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive spasticity, weakness in lower limbs
Complications	N/A
Onset	Childhood to early adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SPG11 gene
Risks	N/A
Diagnosis	Genetic testing, clinical evaluation
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 5A, recessive (SPG5A) is a form of hereditary spastic paraplegia (HSP), a group of inherited disorders characterized by progressive weakness and spasticity of the lower limbs. SPG5A is specifically caused by mutations in the SPG11 gene, which is located on chromosome 15.

Clinical Features

Individuals with SPG5A typically present with symptoms in childhood or early adulthood. The primary clinical features include:

• Progressive spasticity and weakness in the lower limbs
• Difficulty with balance and walking
• Hyperreflexia
• Muscle stiffness

The severity of symptoms can vary widely among affected individuals, even within the same family.

Genetics

SPG5A is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Carriers, who have only one copy of the mutation, typically do not show symptoms.

The SPG11 gene encodes a protein that is involved in the maintenance of axonal integrity. Mutations in this gene disrupt normal neuronal function, leading to the characteristic symptoms of SPG5A.

Diagnosis

Diagnosis of SPG5A is based on clinical evaluation and confirmed by genetic testing. A neurologist may suspect HSP based on the clinical presentation and family history. Genetic testing can identify mutations in the SPG11 gene, confirming the diagnosis.

Management

There is currently no cure for SPG5A. Management focuses on alleviating symptoms and improving quality of life. Treatment options include:

• Physical therapy to maintain mobility and muscle strength
• Medications to manage spasticity, such as baclofen or tizanidine
• Assistive devices, such as braces or walkers, to aid mobility

Prognosis

The prognosis for individuals with SPG5A varies. Some may experience a slow progression of symptoms, while others may have a more rapid decline in mobility. Early intervention with physical therapy and supportive care can help manage symptoms and improve quality of life.

Also see

• Hereditary spastic paraplegia
• Autosomal recessive inheritance
• SPG11
• Neurology