Neuromuscular Disorders

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Neuromuscular Disorders impact the peripheral nervous system and hinder the ability to perform voluntary movements. Examples of these conditions include Limb-Girdle Muscular Dystrophy, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy. 

These muscular disorders encompass a wide array of symptoms related to the abnormal functionality of the muscles. Some conditions, like spinal muscular atrophy, manifest in newborns, while others, such as Duchenne muscular dystrophy, are characterized by the progressive degeneration of muscle tissue, highlighting the diverse nature of muscular atrophies and muscular dystrophies.

Muscular Dystrophies encompass a group of disorders that lead to progressive weakness in the muscles. Among these, the most prevalent condition is Duchenne muscular dystrophy, a type of muscular dystrophy that is X-linked and occurs in approximately 1 in 3,500 males. These conditions are part of a broader category known as neuromuscular disorders, which includes various forms of muscular atrophies.

Muscular Atrophies encompass a group of disorders that lead to the progressive degeneration of spinal nerves, resulting in the wasting away of the muscles they control. On the other hand, Muscular Dystrophies primarily impact skeletal muscle tissue and can result in feeding and breathing difficulties, as well as delayed motor development. Early identification of individuals at risk for these Neuromuscular Disorders can significantly aid in establishing an effective clinical management plan.

Symptoms of neuromuscular disorders, including muscular atrophies and muscular dystrophies, can vary based on the specific type. However, some common muscle-related symptoms may include: muscle weakness, muscle atrophy (loss), muscle twitches (fasciculations), cramps or spasms, muscle pain, difficulty walking, and issues with coordination and balance. Other signs may involve drooping eyelids or changes in other facial features, difficulty speaking due to weakness in the tongue or other oral muscles, as well as challenges with breathing or swallowing. Additionally, numbness, tingling, or other abnormal sensations may also be present.

We provide comprehensive and syndrome-specific panel testing for neuromuscular disorders, including various forms of muscular atrophies and muscular dystrophies. This testing can deliver a molecular genetic diagnosis for a muscular disorder that is either observed or anticipated in you or a family member.