Comparison of a normal heart (left) and a heart with dilated cardiomyopathy (right) In general, the signs and symptoms of AVM are similar to common neuromuscular disorders, including limb-girdle weakness, scapuloperoneal dystrophy, distal myopathy and cardiomyopathy. Both muscles of upper and lower extremity would be affected. The symptoms are progressive. Patients might start off having difficulty in buttoning their clothes and picking up tiny objects. As it progresses to a more severe stage, they would have difficulty walking and rising up from the chair. Peripheral neuropathy is exhibited in approximately 20% of patients, and cardiomyopathy affects 15-30% of AVM patients. The age of onset typically ranges from early childhood to late adulthood. In addition, patients of Danon disease also experience cardiomyopathy, arrhythmia, and skeletal myopathy. Men may also suffer from varying degrees of intellectual disability with additional symptoms being retinal, liver and pulmonary disease. Carrier females may exhibit these symptoms as well. Patients suffering from Pompe disease exhibit a similar set of symptoms, ranging from progressive debilitation, to organ failure and death, of which the severity depends on age of onset, organ involvement, and rate of progression. The onset of Pompe disease varies from infantile, late-infantile, childhood, juvenile, and adult-onset, though Pompe disease is broadly classified into just infant and late-onset. Specifically, for patients suffering from the progressive form of infantile-onset Pompe disease (IOPD), their symptoms eventually result in their deaths due to cardiorespiratory failure as soon as their first year of developing the disease. XMEA exhibits a similar set of symptoms as other AVMs, though the age of onset is predominantly during childhood.
Autophagic vacuolar myopathy
Centronuclear myopathy
Hereditary inclusion body myopathy
Brody myopathy
Nemaline myopathy
Mitochondrial myopathy
X-linked myotubular myopathy
Metabolic myopathy