Neuromuscular Disorders

Neuromuscular disorders affect your nerves or muscles. The most common symptom of neuromuscular disorders is weakness, although other symptoms may include numbness and pain. The most common neuromuscular disorders in children are muscular dystrophies, congenital myopathies, hereditary neuropathies (i.e., Charcot Marie Tooth), and spinal muscular atrophy.

Muscular dystrophy refers to several progressive muscle diseases that weaken the muscular system and impair movement, such as walking. Some more common forms of the disorder are:

• Duchenne: Progressive muscle degeneration and weakness that primarily affects boys, with symptoms appearing in children typically between ages 3 and 5 years
• Limb-Girdle: Muscle weakness primarily affecting the shoulders, upper arms, calf muscles, and sometimes the heart
• Myotonic: The inability to relax muscles

Common Symptoms of Neuromuscular Disorders

• Weakness of the limbs
• Walking abnormalities (e.g., toe walking)
• Clumsiness or poor balance
• Joint contracture
• Delays or regression in motor development

Diagnosis

Diagnosis of a neuromuscular disorder comes from a careful review of your child’s medical history and family medical history, as well as a combination of several specific tests. Things we might use to diagnose a disorder include, but are not limited to:

• Muscle biopsy: The surgical removal of a small piece of muscle tissue for examination
• CK-level blood test: CK stands for creatine kinase, an enzyme that leaks out of damaged muscle and is detected in the blood
• DNA analysis

Neuromuscular Disorder Treatment

Even though there is no known cure for muscular dystrophy or myopathies, several treatments and therapies help reduce symptoms, preserve muscle tone, and improve a child’s quality of life.

Chief among them are physical and occupational therapies to help your child function as independently as possible in activities associated with daily living (such as feeding and self-care) and also outside your home, whether it be in school or pursuing a favorite hobby or sport.

Other ways to help manage a neuromuscular disorder include:

• Orthopedic appliances used for support such as wheelchairs, standing frames, and mobile arm supports
• Medication, combined with specific nutritional supplements, Baclofen and Dantrolene.
• Corrective orthopedic surgery