Myotonic Dystrophy: A Rare Autosomal Dominant Disorder
Journal Title: Indian Journal of Emergency Medicine - Year 2017, Vol 3, Issue 2
Abstract
Myotonic Muscular Dystrophy is inherited form of an autosomal disease which may include cataract, low I.Q., and heart conduction problems. In men their may be early balding and an inability to have children and gastric tract problems are common. It is a form of muscular dystrophy that affects muscles and many other organs in the body. Myotonia means an inability to relax muscles at will, which makes it difficult to relax the fingers after a firm hand grip. Muscular Dystrophy means progressive muscle degeneration leading to weakness and shrinkage of muscle tissues. It is caused by CTG triplet repeat expansion in none coding region of DMPK gene on chromosome 19q13.3, encoding myotonin. Myotonin is required for inter cellular conduction.
Authors and Affiliations
Vikram Shah
Keywords
Related Articles
- EP ID EP453313
- DOI 10.21088/ijem.2395.311X.3217.13
- Views 99
- Downloads 0
Clinical Presentation of Renal Injury at a Tertiary Care Hospital
Introduction: AKI occurs predominantly in urban intensive care units and is associated with multiorgan failure and sepsis, high mortality, and occurrence in older populations. While cases of AKI in urban areas of the dev...
A Case of Myxoedema Coma: Diagnostic Challenge in ED
Myxoedema coma is life threatening emergency of decompensated hypothyroidism, recognition of hypothyroidism may not always be easy in the emergency department setting. Laboratory evaluations of thyroid function are not u...
Outcome of Patients with Acute Poisoning Treated with Gastric Lavage
Background: Acute poisoning is a medical emergency and preventable cause of morbidity and Mortality. Gastric lavage (GL) is one of the most commonly used decontamination method for poisoning in developing countries despi...
Insights into Preparation of Dissertation by Postgraduate Students in Emergency Medicine
According to the rules of Medical Council of India and the National Board of Examinations, a student before being permitted to appear in the examination for the degree of MD/DNB in emergency medicine, is required to subm...
Dramatıc Outcome of Tradıtıonal Treatment: Burn Injurıes Developed Secondary to Ranunculus Arvensıs
The plant of Ranunculus arvensis, a member of Ranunculeceae family, has been used as a traditional method in order to treat a variety of diseases such as rheumatic pain, abscess drainage, burn injuries, wounds. In this s...