Neuromuscular Disorders

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Neuromuscular Disorders affect the peripheral nervous system. These disorders affect the ability to perform voluntary movements. Examples of these disorders are: Limb-Girdle Muscular Dystrophy, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy

The muscular disorders presented here encompass a wide range of disorders and symptoms, all related to abnormal functionality of the muscle. Some diseases present themselves in newborns such as spinal muscular atrophy, while others are related to the progressive degeneration of muscle tissue, such as Duchenne muscular dystrophy.

Muscular Dystrophies is the group of disorders that describes diseases which cause progressive weakness in the muscles the most common dystrophy is the X-linked disorder Duchenne muscular dystrophy which occurs 1:3,500 in males.

Muscular Atrophies is the group of disorders that describes diseases which cause a progressive degeneration of the spinal nerves leading to wasting away of the muscles they control. Hereditary Myopathies primarily affect the skeletal muscle tissue and can cause feeding and breathing difficulties and delayed motor development. Early identification of individuals at risk can help establish the right clinical management plan.

Symptoms of neuromuscular disorders vary based on the specific type. But in general, muscle-related symptoms may include:

• Muscle weakness.
• Muscle atrophy (loss).
• Muscle twitches (fasciculations), cramps or spasm
• Muscle pain
• Difficulty walking and Issues with coordination and balance
• Drooping eyelids or other facial features.
• Difficulty speaking due to tongue to weakness or weakness of other oral muscles
• Difficulty breathing, or swallowing
• Numbness.
• Tingling or other abnormal sensations

We offer comprehensive and syndrome-specific panels testing for neuromuscular and muscular disorders. The test can offer a molecular genetic diagnosis of a muscular disorder that is observed or predicted in you or a family member.