Diagnosis for genetic or rare diseases are often challenging. As such, diagnosis includes a combination of genetic testing, followed by a thorough examination of a person’s medical history, symptoms, a physical exam, and laboratory tests. In addition, a diagnosis may also include a biopsy of the affected muscle tissue. For example, the diagnosis of Pompe disease presents a serious diagnostic dilemma as a result of the rarity and nonspecific phenotypic features of Pompe disease. In other words, the overlapping signs and symptoms that Pompe disease shares with other neuromuscular diseases, such as muscle weakness and even cardiovascular diseases, create significant challenges for diagnosis. Muscle biopsy is often used as an early diagnostic tool in the diagnosis of all muscular diseases. However, it has been discovered that the use of muscle biopsies alone tends to result in false-negative results and subsequent delays in identifying and treating Pompe disease. Therefore, a combination of several tests is typically used in conjunction to confirm whether a patient is suffering from Pompe disease. As mentioned, the signs and symptoms of Pompe disease, such as poor muscle tone and an enlarged heart, are typical to other conditions too. As such, a thorough and differential diagnosis by specialists can help to distinguish Pompe from other diseases with similar symptoms. Supposing the differential diagnosis concludes that Pompe disease is indeed present, further testing such as enzyme activity tests to measure the levels and activity of the acid alpha-glucosidase enzyme, or genetic testing to examine the GAA gene to determine mutations, should be performed for confirmation. In addition, chest x-rays to check for an enlarged heart, electrocardiograms (ECG) to detect abnormal heartbeat patterns, and electromyograms (EMG) to assess for the presence of muscle injury and dysfunction, are additional tests that are performed to diagnosis Pompe disease.
Autophagic vacuolar myopathy
Centronuclear myopathy
Hereditary inclusion body myopathy
Brody myopathy
Nemaline myopathy
Mitochondrial myopathy
X-linked myotubular myopathy
Metabolic myopathy