Roussy–Lévy syndrome facts for kids

Roussy–Lévy syndrome is a very rare disorder that causes muscles to slowly get weaker and waste away. It's also called Roussy–Lévy areflexic dystasia. This condition happens because of changes in genes. These changes affect the myelin sheath, which is like the insulation around your nerves. When the myelin sheath doesn't work right, nerve signals can't travel properly. This leads to muscles losing their ability to move well.

People of all ages, from babies to adults, can be affected by this condition.

What Are the Signs and Symptoms?

The main signs of Roussy–Lévy syndrome come from damage to nerves and muscles. This damage causes muscles to slowly waste away.

• Muscle Weakness: You might notice weakness in the muscles furthest from your body, especially in your lower legs.
• Balance Problems: Walking can become difficult and unsteady, which is called ataxia.
• Foot Shape Changes: Many people have a high arch in their feet, known as pes cavus.
• Tremors: Shaking or trembling, especially in the hands and arms, can occur.
• Lost Reflexes: Tendon reflexes, like the knee-jerk reflex, might be absent.
• Numbness: Some people may have a loss of feeling in their hands or feet.

These symptoms often mean that children might start walking later than usual. They may also struggle with coordination and balance. A common issue is foot drop, where it's hard to lift the front part of the foot.

Symptoms usually appear in babies or young children. They tend to get slowly worse until around age 30. After that, the condition might stop progressing for some people.

What Causes Roussy–Lévy Syndrome?

Roussy–Lévy syndrome is linked to changes, called mutations, in certain genes.

• PMP22 Gene: One cause is an extra copy of the PMP22 gene. This gene gives instructions for making a protein called peripheral myelin protein 22. This protein is a key part of the myelin sheath that protects your nerves.
• MPZ Gene: Another cause is a specific type of change in the MPZ gene. This gene makes a protein called myelin protein zero, which is also very important for the myelin sheath.

These gene changes are also found in another group of nerve disorders called Charcot–Marie–Tooth disease. Because of this, scientists are still discussing if Roussy–Lévy syndrome is its own condition or a specific form of Charcot–Marie–Tooth disease.

How Does It Affect the Body?

Like other types of Charcot–Marie–Tooth disease, Roussy–Lévy syndrome affects how fast nerve signals travel. When doctors examine nerves, they often find that signals move slower than they should.

Under a microscope, nerve tissue from people with this syndrome can show unusual "onion bulb" shapes. These shapes helped the scientists who first described the disorder, Gustave Roussy and Gabrielle Lévy, link it to Charcot–Marie–Tooth disease.

For nerves to work correctly, different cells like neurons (nerve cells) and Schwann cells need to work together. They send signals to each other to help nerves grow and stay healthy. In people with Roussy–Lévy syndrome, these important signals are disrupted.

How Is It Diagnosed?

Doctors might suspect Roussy–Lévy syndrome based on a person's symptoms. However, to be absolutely sure, special tests are needed. These tests can include KT or MRT scans, which help doctors see inside the body.

How Is It Treated?

There is no specific medicine that cures Roussy–Lévy syndrome. The main focus of treatment is to help manage the symptoms and improve daily life.

• Physical Therapy: This is very helpful! Physical therapy can include exercises to keep muscles strong and flexible. Water therapy is often recommended because it supports the body and puts less stress on muscles. Staying moderately active is also important to maintain movement and endurance.
• Foot Care: For people with foot deformities, custom-made shoes and leg braces can help reduce discomfort and make it easier to walk.
• Surgery: Sometimes, if foot deformities are severe, doctors might suggest corrective surgery. This is usually a last option. Surgeries might involve straightening toes, lowering the foot arch, or even fusing ankle joints for more stability. Recovering from these surgeries can take a long time.

While no medicines treat the disorder, patients are advised to avoid certain medications that might make their symptoms worse.

What Is the Prognosis?

Roussy–Lévy syndrome is not a life-threatening disease. People with this condition usually have a normal life expectancy.

History

See also

In Spanish: Síndrome de Roussy-Lévy para niños