What is Myotubular myopathy?
Also known as Centronuclear myopathy, myotubular myopathy is so called because parts of the muscle resemble the “myotubes” of fetal muscle. This is a familial disease with weakness becoming manifest soon after birth, in infancy or early childhood. In children droopy eyelids, weak eye muscles, weak face, jaw, tongue and swallowing movements as well as neck muscles are the prominent features. Weakness in the limbs affects the hands and the shoulders as well as the feet and hips. The reflexes remain absent. Motor development is not necessarily slowed but later in life weakness can progress. The disease has been classified into three types based on the severity, mode of presentation and genetic pattern. There is a severe neonatal X-linked recessive type, a less severe autosomal infantile or childhood autosomal recessive type and a milder late childhood-adult autosomal dominant type. The gene for the X-linked form has been localised to chromosome Xq28 making possible the identification of carriers. Clearly then this type will only occur in males but the other two types may occur in females as well.
The precise nature of the condition is not properly understood and there is no specific treatment that can be offered.
Reference: Principles of Neurology, McGraw Hill, Sixth edition, Adams, Victor & Ropper, Chapter 52, pages 1453-1454.
RELATED PROBLEMS
Malignant Hyperthermia
This is a susceptibility to commonly used general anaesthetics. Causes greatly increased metabolism, muscle rigidity, and an elevated temperature of as much as 110°F. If not immediately treated, death can result. Some survivors may have brain damage or other impairment. Susceptible persons may have safe surgeries by avoiding the “trigger” anaesthetics.
How does Myotubular Myopathy effect daily lives of people with the disease?
The effect on people with the disease depends on the severity of the disorder. Some have severe mobility problems, requiring the use of a scooter or wheelchair for long distances. Difficulty breathing is also common, with poor lung capacity the likely result. Myotubular Myopathy is very rare thus a more comprehensive list is difficult to generate.
How does one get Myotubular Myopathy?
Myotubular Myopathy is congenital, that is, a muscle disorder or disease present from birth. As one is born with this disorder, it can not be caught like a common cold.
RESOURCES
Congential Myopathies and Weaknesses
http://www.neuro.wustl.edu/neuromuscular/syncm.html#cnm
Myotubular Myopathy 1; MTM1
http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310400
Myotubular Myopathy Resource Group
http://www.mtmrg.org/
Joshua Frase Foundation – Supporting research for Myotubular Myopathy and other Congenital Myopathies
http://www.healthnutz.com/our.htm
Kelly McLean for DIRC, Dec 2000
