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Warning Signs of Neuromuscular Disease

When a child doesn’t reach certain growth milestones, this may be a warning sign of a neuromuscular disease. Low muscle tone, delay reaching motor milestones, difficulty walking, and poor exercise endurance are early signs of neuromuscular conditions.

General concerns that we evaluate at Children’s National Health System include:

  • Delay in acquiring or loss of motor skills
  • Low muscle tone (hypotonia, "floppy infant")
  • Recurrent rhabdomyolysis (a condition where muscle cells break down and release a harmful protein into the blood)
  • Shortening or hardening of muscles and/or tendons (joint contractures) and changes in joint structures (arthrogryposis)
  • Weakness

The Neuromuscular Program coordinates care for patients with the following conditions:

Acquired myopathies (polymyositis, dermatomyositis)

Friedreich's ataxia

Acquired neuropathies and polyneuropathies (Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy)

Juvenile amyotrophic lateral sclerosis (ALS)

Charcot-Marie-Tooth disease/Hereditary myopathies

Metabolic myopathies (carnitine palmityl transferase deficiency, McArdle's disease and phosphofructokinase disease (Tarui's disease)) 

Congenital muscular dystrophy (Collagen-VI, LAMA 2, alpha-dystroglycanopathy, SEPN 1)

Mitochondrial myopathies

Congenital myasthenic syndromes

Muscular dystrophies such as facioscapulohumeral muscular dystrophy (FSH or FSHD), Limb-Girdle and myotonic

Congenital myopathies (RYR 1, MTM 1, nemaline)

Myasthenia gravis

Dejerine-Sottas disease

Pompe's disease

Dystrophinopathies (Becker and Duchenne muscular dystrophy)

Spinal muscular atrophy



Contact Us

For more information, call us at 202-476-6193.