Myotubular Myopathy (MTM) is the most common form of a group of congenital myopathies called centronuclear myopathies (CNM). CNM is characterized by the abnormal positioning of the nuclei in the skeletal muscle cells. Normally, the nuclei are located at the periphery. But in CNM patients, they are located centrally, i.e. in the center of the cell. The term myotubular myopathy was first coined by a New York neurologist named Dr. Spiro. Dr. The presence of nuclei in the center of the cells reminded Dr. Spiro of the “myotubular” stage during embryonic development, thus the term. He suspected that the myopathy may be caused by growth detention during the myotubular phase.

Electrophysiologic or electrodiagnostic testing can be done to help in diagnosis. This process differentiates between myopathies and neuropathies. A muscle biopsy is almost always necessary to examine the nuclear material of the muscle cells.

Currently, Myotubular Myopathy has no known cure, and treatment is mostly focused on managing symptoms and decreasing complications.

Currently, MTM has no known cause, but it appears to be mostly genetic in origin. This group of inherited muscle disorders occurs when the muscle cell development of unborn infants is arrested during the middle stage. The X-Linked Myotobular Myopathy is the most severe form of this condition, and is common in males. Among affected patients, this condition frequently presents at birth. Historically, all young boys diagnosed with this X-Linked MTM died shortly after birth, but recent treatments have improved the survival rate of MTM patients. The autosomal form of MTM is less common and exhibit more variable symptoms. Generally, autosomal dominant MTM patients pass the condition from generation to generation. Symptoms are manifested in late childhood or even in early adulthood, and seem to worsen as time passes. Conversely, the automosal recessive form can manifest at birth but is less severe than X-linked. Both forms can affect males and females.

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