Neuromuscular disorders represent a heterogeneous group of genetic abnormalities affecting the normal function of nerve and muscle. The age of onset is variable and clinical presentations depend on the type of condition. Symptoms can include muscle pain, weakness, and spasms.
Some conditions can lead to progressive loss of muscle, impairment, or loss of ambulation, and can also affect the lungs, heart, bones, and digestive system.
Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation. Some may also be caused by immune system conditions.
Patients with neuromuscular disorders may develop heart conditions. They may have arrythmias, conduction disturbances, cardiac dysfunction, and heart failure. Clinical symptoms can range from asymptomatic to life threatening and can include palpitations, shortness of breath, chest pain, lightheadedness, and fainting or passing out.
Regular follow up and testing will assist in detecting early cardiac abnormalities and allow for the best possible treatment outcomes.
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Diagnosis
A cardiologist will carry out a full medical examination, arrange for an electrocardiogram (ECG), a chest X-ray, an echocardiogram, and possibly blood tests. Other tests, including cardiac magnetic resonance imaging (CMR), holter monitor, cardiopulmonary stress test (CPET), and heart catheterization may be performed.
Treatments
Detecting early cardiac abnormalities is extremely important to allow for the best possible treatment outcomes. Treatment is variable and depends on the specific type of abnormality and the degree of dysfunction. Some patients will require no intervention. Others may require more extensive cardiac treatments including medications, pacemakers, implantable defibrillators (ICD), left ventricular assist devices (LVAD), and heart transplant.