Juvenile primary lateral sclerosis

Juvenile Primary Lateral Sclerosis
Specialty	Neurology
Symptoms	Progressive muscle weakness, spasticity
Usual onset	Childhood
Duration	Chronic
Causes	Genetic mutations
Diagnostic method	Clinical evaluation, genetic testing
Treatment	Symptomatic management, physical therapy
Prognosis	Variable

Juvenile Primary Lateral Sclerosis (JPLS) is a rare neurodegenerative disorder characterized by progressive muscle weakness and spasticity due to the degeneration of upper motor neurons. It is a form of primary lateral sclerosis (PLS) that presents in childhood, typically before the age of 20.

Etiology

JPLS is primarily caused by genetic mutations. The most common genetic mutation associated with JPLS occurs in the ALS2 gene, which encodes the protein alsin. Alsin is involved in the maintenance of motor neuron function, and mutations in this gene lead to the degeneration of upper motor neurons.

Clinical Presentation

The hallmark symptoms of JPLS include:

• Progressive muscle weakness
• Spasticity, particularly in the legs
• Difficulty with balance and coordination
• Hyperreflexia (exaggerated reflexes)

Unlike amyotrophic lateral sclerosis (ALS), JPLS does not typically affect the lower motor neurons, and therefore, muscle atrophy and fasciculations are not prominent features.

Diagnosis

Diagnosis of JPLS is based on clinical evaluation and the exclusion of other conditions. Genetic testing can confirm the diagnosis by identifying mutations in the ALS2 gene. Magnetic resonance imaging (MRI) of the brain and spinal cord may show degeneration of the corticospinal tracts.

Management

There is currently no cure for JPLS. Treatment focuses on managing symptoms and improving quality of life. This may include:

• Physical therapy to maintain mobility and reduce spasticity
• Medications such as baclofen or tizanidine to manage spasticity
• Assistive devices for mobility

Prognosis

The progression of JPLS is variable. Some individuals may experience a slow progression of symptoms, while others may have a more rapid decline. Life expectancy can be normal, but quality of life may be significantly affected by the degree of disability.

Also see

• Primary lateral sclerosis
• Amyotrophic lateral sclerosis
• Hereditary spastic paraplegia
• Motor neuron disease

References

Juvenile primary lateral sclerosis Resources
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