What does myotubular myopathy mean?
Description. Collapse Section. X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.
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.
Is myotubular myopathy progressive?
The muscles of the face may be weak including those that control eye movement. Myotubular myopathy is generally considered a non-progressive or slowly progressive condition. There are also incidences of women who are carriers of the gene that causes myotubular myopathy having muscle weakness.
Is myotubular myopathy fatal?
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.
Can Myotubular myopathy be cured?
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.
How is Myotubular myopathy diagnosed?
A diagnosis of XLMTM is confirmed through molecular genetic testing, which can detect mutations in the MTM1 gene causative of the disorder. Molecular genetic testing can detect a mutation in approximately 60%-98% of affected individuals and is available on a clinical basis.
Is Myotubular myopathy a rare disease?
X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that is most typically severe but can range from mild to profound. Symptoms are often present at birth, though may develop later in infancy or early childhood.
What is the difference between myotubular myopathy and centronuclear myopathy?
The term myotubular myopathy is commonly used for the x-linked form, whilst the term centronuclear myopathy is mainly reserved for the other forms. The commonest form is x-linked myotubular myopathy, affecting mainly boys, and is also the most severe.
What is centronuclear myopathy (CNM)?
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by a) numerous centrally placed nuclei on muscle biopsy and b) clinical features of a congenital myopathy.
What is X-linked myotubular myopathy?
The commonest form is x-linked myotubular myopathy, affecting mainly boys, and is also the most severe. It usually presents in the newborn period and there are associated breathing and swallowing difficulties in addition to the general muscle weakness.
What is the prognosis of autosomal centronuclear myopathy?
Autosomal centronuclear myopathies are rarely fatal in childhood and do not seriously weaken the respiratory muscles the way the X-linked form does (see above). Weakness is diffuse but generally has a preference for either the proximal (near the center of the body) or distal (away from the center of the body) muscles.