ROUSSY LEVY SYNDROME Meaning and
Definition
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Roussy Levy Syndrome, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is a rare genetic disorder that affects the peripheral nerves. It falls within the spectrum of Charcot-Marie-Tooth disease (CMT), which comprises a group of inherited neuropathies characterized by damage to the peripheral nerves that control movement and sensation.
Roussy Levy Syndrome is specifically characterized by a combination of peripheral neuropathy and tremor. Individuals with this syndrome may experience weakness, muscle wasting, and a loss of sensation in the extremities, particularly the lower legs and feet. Additionally, they often present with an intention tremor, which worsens with purposeful movements and is a key characteristic of the condition.
This syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutated gene to each of their children. The exact underlying genetic cause is often related to mutations in the HSPB1 gene, which encodes for the heat shock protein beta-1. This protein plays a critical role in the proper functioning of peripheral nerves.
Symptoms of Roussy Levy Syndrome can range from mild to severe and usually develop gradually over time. There is currently no cure for this disorder, and treatment mainly focuses on managing the symptoms and improving quality of life. Physical and occupational therapy, assistive devices such as braces or orthotics, and medications for pain management may be prescribed by healthcare professionals specializing in neurology or genetics.
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