Neuromuscular Disorders & Diagnosis
Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Most neuromuscular disorders are present at birth. There are hundreds of neuromuscular disorders, many with subtypes related to specific genetic causes including Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease (CMT), Friedreich’s Ataxia (FA). Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected--the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle--and then on the determination of the etiology and specific clinical entity. Some neuromuscular disorders can be diagnosed with a blood test alone. Others require a muscle or nerve biopsy.
- Track 1-1 Muscular Dystrophy
- Track 2-2 Friedreich Ataxia (FA)
- Track 3-3 Spinal muscular atrophy
- Track 4-4 Charcot-Marie-Tooth (CMT) Disease
- Track 5-5 Diagnosis & Treatment