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, and calf muscles, and sometimes the heart
Myotonic: The inability to relax muscles

Overview of Neuromuscular Disorders

Symptoms

Common symptoms of neuromuscular disorders include:

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 evolves from a careful review of your child’s medical history, including family medical history, and 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
Electromyography (EMG): These tests record nerve conduction by stimulating then assessing individual muscles or nerves to see how they react
DNA analysis

Treatment

Even though there is no known cure for muscular dystrophy or myopathies, there are several treatments and therapies to 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

(Adapted from the Muscular Dystrophy Association)

Resources

Website Resources

Support Groups

MDA support group - Held monthly at Child Neurology Consultants of Austin (CNCA) - Far West Medical Tower. For details, contact CNCA at (512) 494-4000
Parent Project Muscular Dystrophy

For a complete evaluation of your child’s neuromuscular health, look no further than Child Neurology Consultants of Austin. We are the only pediatric neurology group in Central Texas, with locations in Austin, South Austin and Cedar Park. Our team of board-certified, fellowship-trained child neurologists and nurse practitioners are standing by ready to help.

Call (512) 494-4000 for an appointment or submit an online appointment request form to get started.

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Neuromuscular Disorders

Overview of Neuromuscular Disorders

Symptoms

Diagnosis

Treatment

Resources

Patient Education

Child Neurology Blog

Austin - Far West Medical Tower

Cedar Park - Pediatric Specialty Center

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