Roussy–Levy hereditary areflexic dystasia

Roussy–Lévy syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Muscle weakness, areflexia, tremors
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, physical therapy
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Roussy–Lévy hereditary areflexic dystasia, also known as Roussy–Lévy syndrome, is a rare neurological disorder characterized by muscle weakness, areflexia (absence of reflexes), and tremors. It is considered a variant of Charcot-Marie-Tooth disease (CMT), specifically a subtype of CMT type 1.

History

Roussy–Lévy syndrome was first described in 1926 by French neurologists Gustave Roussy and Gabriel Lévy. They identified a familial pattern of symptoms that included muscle weakness and sensory disturbances, which they linked to a hereditary condition.

Genetics

Roussy–Lévy syndrome is caused by mutations in the PMP22 gene, which is also implicated in other forms of Charcot-Marie-Tooth disease. The PMP22 gene provides instructions for making a protein that is a component of myelin, the protective covering that insulates nerve fibers. Mutations in this gene lead to demyelination, which disrupts nerve signal transmission.

Clinical Features

The main clinical features of Roussy–Lévy syndrome include:

• Muscle Weakness: Primarily affects the distal muscles of the legs and arms, leading to difficulty with walking and fine motor skills.
• Areflexia: Absence of deep tendon reflexes, such as the knee-jerk reflex.
• Tremors: Involuntary shaking, often affecting the hands.
• Sensory Disturbances: Patients may experience numbness or tingling in the extremities.

Diagnosis

Diagnosis of Roussy–Lévy syndrome involves a combination of clinical evaluation and genetic testing. A neurologist will assess the patient's symptoms and family history, and genetic tests can confirm mutations in the PMP22 gene.

Management

There is no cure for Roussy–Lévy syndrome, but management focuses on alleviating symptoms and improving quality of life. This may include:

• Physical Therapy: To maintain muscle strength and mobility.
• Orthopedic Devices: Such as braces or orthotics to support weakened limbs.
• Occupational Therapy: To assist with daily activities and improve fine motor skills.

Prognosis

The progression of Roussy–Lévy syndrome is typically slow, and while it can lead to significant disability, life expectancy is generally not affected. Supportive care can help manage symptoms and maintain independence.

Also see

• Charcot-Marie-Tooth disease
• Hereditary neuropathy
• Peripheral neuropathy

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External links

• Comprehensive information from the National Institute of health.
  

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