What is congenital myasthenia syndrome?

Summary. The congenital myasthenic syndromes (CMS) are a diverse group of disorders that have an underlying defect in the transmission of signals from nerve cells to muscles. These disorders are characterized by muscle weakness, which is worsened upon exertion.

Is CMS hereditary?

Slow-channel CMS is inherited in an autosomal dominant manner. This means that one copy of a defective gene is enough to cause the disease, so an affected parent has a 50 percent chance of passing the disease on to a child.

Is congenital myasthenic syndrome curable?

There is no single treatment for congenital myasthenic syndromes . Treatment is based on the symptoms and may be determined by the specific subtype. Medications that have been used to treat CMS include: AChE inhibitors.

Is congenital myasthenia gravis an autoimmune disease?

Purpose of review: Myasthenia gravis (MG) is an autoimmune neuromuscular disease that causes fluctuating weakness in ocular, bulbar, and limb muscles and can, in 15% of cases, cause myasthenic crisis, a neurologic emergency characterized by respiratory failure.

How many people in the world have congenital myasthenic syndrome?

Many patients with CMS can be effectively treated with a standard medication. CMS is a rare condition with approximately 1 patient in 150,000 people world-wide. First symptoms of CMS usually occur in children before the age of 3 years, but a later onset has also been observed in some patients.

How is congenital myasthenic syndrome inherited?

This condition is most commonly inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

How does congenital myasthenia gravis affect breathing?

The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest. Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis.

What is a snowflake disease?

Often referred to as “the snowflake disease,” myasthenia gravis, or MG, affects each person differently and likewise, treatment must be individuallized. Myasthenia gravis is an autoimmune disease characterized by muscle weakness of the voluntary muscles. The more these muscles are used, the more they weaken.

How serious is myasthenia gravis?

In about 1 in 5 people, only the eye muscles are affected. Treatment can usually help keep the symptoms under control. Very occasionally, myasthenia gravis gets better on its own. If severe, myasthenia gravis can be life-threatening, but it does not have a significant impact on life expectancy for most people.

What is the treatment for congenital myasthenia?

Treatment for most types of congenital myasthenia typically involves the use of drugs that help promote the transmission of nerve impulses. Drugs that retard the breakdown of acetylcholine can be used.

What is Lambert-Eaton myasthenic syndrome?

Lambert-Eaton Myasthenic Syndrome is an extremely rare autoimmune disorder which is characterized by gradual onset of muscle weakness especially of the thigh and pelvic muscles.

What is the description of babies with congenital myasthenia?

Congenital Myasthenia Gravis (CMG) is a form of weakness most likely presenting itself during infancy with fatigability, difficulty sucking on pacifier, inactivity, and decreased tone of the muscles.

What is the abbreviation for congenital myasthenia gravis?

CMG is a shorter form of canine or congenital myasthenia gravis CMG means canine or congenital myasthenia gravis CMG is an abbreviation for canine or congenital myasthenia gravis