Spastic paraplegia type 6, dominant

Spastic paraplegia type 6, dominant
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Progressive spasticity and weakness of the lower limbs
Complications	N/A
Onset	Childhood to adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SPG6 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 6, dominant (SPG6) is a form of hereditary spastic paraplegia (HSP), a group of inherited disorders characterized by progressive weakness and spasticity of the lower limbs. SPG6 is caused by mutations in the SPG6 gene, which is inherited in an autosomal dominant manner.

Clinical Features

Patients with SPG6 typically present with progressive spasticity and weakness of the lower limbs. The age of onset can vary from childhood to adulthood, and the severity of symptoms can also vary among individuals. Common symptoms include:

• Stiffness and tightness in the leg muscles (spasticity)
• Difficulty with balance and walking
• Muscle weakness
• Hyperreflexia (increased reflexes)

Genetics

SPG6 is caused by mutations in the SPG6 gene, which is located on chromosome 15. The gene is responsible for encoding a protein that is involved in the maintenance of the axonal structure and function. Mutations in this gene disrupt normal neuronal function, leading to the symptoms observed in SPG6.

Diagnosis

The diagnosis of SPG6 is based on clinical evaluation and genetic testing. A neurologist will assess the patient's symptoms, family history, and perform a physical examination. Genetic testing can confirm the diagnosis by identifying mutations in the SPG6 gene.

Management

There is currently no cure for SPG6, and treatment is focused 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
• Assistive devices like canes or walkers to aid in mobility

Prognosis

The prognosis for individuals with SPG6 varies. Some individuals may experience mild symptoms and maintain mobility throughout life, while others may experience significant disability. Early intervention with physical therapy and symptomatic treatment can help improve outcomes.

Also see

• Hereditary spastic paraplegia
• Autosomal dominant inheritance
• Neuromuscular disorders