Child Neurology Consultants of Austin

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


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 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


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)


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, call (512) 494-4000 for an appointment or book an appointment online.