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 100
- Downloads 0
Comparative Study of Clinical Profile of Acute Myocardial Infarction between Elder Age Groups and Nonelder (Younger) Age Group
Introduction: Elderly patients were more likely to have non Q wave MI. The key issue for the elderly is that only few patients have symptoms and ECG findings that qualify them for thrombolytic therapy. This may be becaus...
Case of Takaysu Arteritis in The Indian Population: Probable Association with Tuberculosis
Takaysu’s arteritis, or “pulseless” disease is a rare, idiopathic, chronic granulomatous vasculitis that affects aorta and its major branches. Indian origin aortoarteritis is a rare variant of this disease presenting as...
Comparison of MEWS, REMS and RAPS for Predicting Outcomes of Non-Surgical Patients in Emergency Room
Context: There are several scoring system in the literature to triage and predict prognosis of the patient using simple physiologic parameters. MEWS, REMS, RAPS are few among them. An appropriate scoring system is essent...
A Study of Systemic Factors Affecting Mortality and Morbidity of Traumatic Brain Injury
Head injury is a devastating problem worldwide including India. Loss of young people at their productive years is a great emotional and financial concern for the families affected by it which contributes to the economic...
Acute Illicit Alcohol Poisoning: A Systematic Approach to Diagnosis and Management
Introduction: Illicit alcohol is spiked with various substances e.g. methanol, solvents, pesticides, sedatives and plant extracts. Patient with poisoning due to illicit alcohol are usually brought to the hospital in ineb...