Neuromuscular disorders refer to a broad group of diseases that affects the nerves and muscles, leading to muscle weakness which will worsen over time.
Some of the common neuromuscular disorders include Duchenne and Becker Muscular Dystrophy, Spinal Muscular Atrophy and Charcot Marie Tooth which are hereditary as well as Myasthenia Gravis which is not hereditary.
There are various types of neuromuscular disorders and heredity is the main cause for the common types. The other neuromuscular disorders are sporadic (occurs at random or by chance, not hereditary).
The main symptom in neuromuscular disorders is muscle weakness which usually worsens over time. Children may have delayed motor skills, frequent falls or difficulty with running, climbing or jumping. They may also have numbness or pain depending on the type of neuromuscular disorder.
Most of the neuromuscular disorders have no cure. The goal of treatment is to improve the symptoms, increase mobility and lengthen the life of the child.
The diagnosis of any neuromuscular disorder depends on a comprehensive history taking and physical examination. Further tests are done subsequently, which may include blood tests for muscle enzymes, genetic testing, nerve conduction study or muscle biopsy.
Tests on other organ systems such as the heart or lungs may be required if they are associated with the respective types of neuromuscular disorder. For example, Duchenne Muscular Dystrophy has heart involvement but not Myasthenia Gravis and Spinal Muscular Atrophy. Thus, heart screening will be performed if a child has Duchenne Muscular Dystrophy.