Myotonic muscular dystrophy is sex linked

An accurate diagnosis is important to assist with appropriate medical monitoring and management of symptoms. Myotonin-protein kinase in skeletal and heart muscle, gonads , and brain. Over time, the muscle fibers break down. Myotonic dystrophy may have a cortical cataract with a blue dot appearance, or a posterior subcapsular cataract. It will also depend on how severe the condition is. Men and women are equally likely to pass on Myotonic Dystrophy to their children.
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Disease synonyms

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Myotonic syndromes

Hypokalemic Thyrotoxic Hyperkalemic. This is in distinct contrast with the prevailing concept that genes are handed down through generations essentially unchanged and that either a gene is normal or it is not. Alternative Titles: dystrophia myotonica, myotonic muscular dystrophy. But it has been difficult to determine the true incidence of the disease because only its severe form is clearly recognized. What is muscular dystrophy? A child is more at risk for BMD if he or she has a family member with the disease.
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Myotonic syndromes – Knowledge for medical students and physicians

Altered splicing of the muscle-specific chloride channel 1 ClC-1 has been shown to cause the myotonic phenotype of DM1 and is reversible in mouse models using Morpholino antisense to modify splicing of ClC-1 mRNA. Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal most. In some cases, a child may need a wheelchair earlier. Myotonic dystrophy type II. Cleidocranial dysostosis. Nature , , —
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Myopathic facies Long, narrow face Hollowed cheeks , and high arched palate Ptosis Sternocleidomastoid muscle wasting Clinical myotonia : Classically manifests as difficulty releasing a handshake. By using this site, you agree to the Terms of Use and Privacy Policy. The new finding explains this variability. In some cases, a child may need a wheelchair earlier. This section needs more medical references for verification or relies too heavily on primary sources. Myotonic dystrophy type 1 is the most common form affecting adults.
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