As with other myopathies, the clinical manifestations of MTM/CNM are most notably muscle weakness and associated disabilities. Congenital forms often present with neonatal low muscle tone, severe weakness, delayed developmental milestones (particularly gross motor milestones such as head control, crawling, and walking) and pulmonary complications (presumably due to weakness of the muscles responsible for respiration). Involvement of the facial muscles may cause ophthalmoplegia or ptosis. A mutation in the RYR1 gene causing<unk>  may also cause susceptibility to malignant hyperthermia, a potentially life-threatening reaction to anesthesia. While some patients with<unk> es remain ambulatory throughout their adult life, others may never crawl or walk and may require wheelchair use for mobility. There is substantial variability in the degree of functional impairment among the various<unk> es. Although this condition only affects the voluntary muscles, several children have suffered from cardiac arrest, possibly due to the additional stress placed on the heart. Other observed features have been high arched palate, long digits, bell shaped chest and long face. Myotubular myopathy only affects muscles and does not impact intelligence in any shape or form. X-linked myotubular myopathy was traditionally a fatal condition of infancy, with life expectancy of usually less than two years. There appears to be substantial variability in the clinical severity for different genetic abnormalities at that same MTM1 gene. Further, published cases show significant differences in clinical severity among relatives with the same genetic abnormality at the MTM1 gene. Most truncating mutations of MTM1 cause a severe and early lethal phenotype, while some missense mutations are associated with milder forms and prolonged survival (up to 54 years).<unk> es typically have a milder presentation and a better prognosis. Autosomal dominant<unk>  tends to have a less severe phenotype than the autosomal recessive version. Recently, researchers discovered mutations at the gene dynamin 2 (DNM2 on chromosome 19, at site 19p13.2), responsible for the autosomal dominant form of<unk> . This condition is now known as dynamin 2<unk>  (abbreviated DNM2-CNM). Research has indicated that patients with DNM2-CNM have a slowly progressive muscular weakness usually beginning in adolescence or early adulthood, with an age range of 12 to 74 years.
Centronuclear myopathy
Nemaline myopathy
Brody myopathy
Hereditary inclusion body myopathy
Inflammatory myopathy
Muscular dystrophy
Metabolic myopathy
Autophagic vacuolar myopathy