Spastic paraplegia type 2, X-linked

Spastic paraplegia type 2, X-linked
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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	Childhood to early adulthood
Duration	N/A
Types	N/A
Causes	Genetic mutation in the PLP1 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 2, X-linked (SPG2) is a rare genetic disorder characterized by progressive spasticity and weakness of the lower limbs. It is one of the hereditary spastic paraplegias (HSPs), a group of inherited disorders that primarily affect the upper motor neurons.

Genetics

SPG2 is caused by mutations in the PLP1 gene, which is located on the X chromosome. The PLP1 gene encodes the proteolipid protein 1, a major component of myelin in the central nervous system. Mutations in this gene disrupt the normal formation and maintenance of myelin, leading to the neurological symptoms observed in SPG2.

As an X-linked disorder, SPG2 predominantly affects males, although females can be carriers and may exhibit mild symptoms due to skewed X-inactivation.

Clinical Features

The primary clinical feature of SPG2 is progressive spasticity and weakness of the lower limbs. This can lead to difficulties with walking and balance. The age of onset can vary, typically presenting in childhood or early adulthood.

Other symptoms may include:

• Urinary incontinence
• Mild cognitive impairment
• Ataxia

Diagnosis

Diagnosis of SPG2 involves a combination of clinical evaluation and genetic testing. A neurologist may perform a physical examination to assess spasticity and muscle strength. Genetic testing can confirm the diagnosis by identifying mutations in the PLP1 gene.

Management

There is currently no cure for SPG2, and treatment is focused on managing symptoms. This may include:

• Physical therapy to improve 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 SPG2 can vary. 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 improve quality of life.

Also see

• Hereditary spastic paraplegia
• X-linked recessive inheritance
• Myelin
• Neurological disorder