What are the symptoms of Myotubular myopathy?
Common symptoms include mild to profound muscle weakness, diminished muscle tone (hypotonia or “floppiness”), feeding difficulties, and potentially severe breathing complications (respiratory distress).
What causes Myotubular myopathy?
What causes myotubular myopathy? This disease is caused by defects or deficiencies of myotubularin, a protein thought to promote normal muscle development. It is inherited in an X-linked recessive pattern, meaning it primarily affects boys, who inherit the disease through their mothers.
What is Centronuclear myopathy?
Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound.
Is Myotubular myopathy curable?
The goal is to increase production of myotubularin protein allowing our muscles to contract and, in turn, giving patients the ability to breathe and swallow on their own. The treatment is not a cure for the disease, but a means to control disease progression and reduce symptoms.
What is the treatment for Myotubular myopathy?
Treatment for myotubular myopathy is supportive and includes assisted breathing, feeding, and motor support. At Boston Children’s Hospital, we care for children with MTM in our Neuromuscular Center, which brings together clinicians in respiratory care, orthopedics, physical therapy, genetics, and other specialties.
Is Myotubular myopathy fatal?
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy.
How is Myotubular myopathy diagnosed?
How is myotubular myopathy diagnosed? In addition to signs of muscle weakness, MTM has other features that will help physicians make the diagnosis. These include a high forehead, a long face, a large head, long fingers and toes, droopy eyelids, and undescended testicles.
Is Myotubular myopathy inherited?
X-linked myotubular myopathy is inherited in an X-linked recessive pattern . The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.