Question: What is (are) Myotonic dystrophy ?
Answer: Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family. There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.
Source: GARD

Question: What are the symptoms of Myotonic dystrophy ?
Answer: What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; cataracts; and cardiac conduction defects (irregular electrical control of the heartbeat). Some affected men also have hormonal changes that may cause balding or infertility. The severity of symptoms can vary widely among affected people. The signs and symptoms of type 1 and type 2 overlap, but type 2 is generally more mild than type 1. People who are born with the condition have congenital myotonic dystrophy, which is a variation of type 1. Congenital myotonic dystophy causes weakness of all muscles, in addition to breathing problems, developmental delays and intellectual disabilities. The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cataract 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Diabetes mellitus - Dysphagia - Elevated follicle stimulating hormone - Elevated serum creatine phosphokinase - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - IgG deficiency - IgM deficiency - Insulin insensitivity - Intellectual disability, progressive - Intellectual disability, severe - Iridescent posterior subcapsular cataract - Myalgia - Neck flexor weakness - Obsessive-compulsive trait - Oligospermia - Palpitations - Polyhydramnios - Proximal muscle weakness - Respiratory distress - Tachycardia - Testicular atrophy - Type 2 muscle fiber atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Myotonic dystrophy ?
Answer: What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dystrophy, the gene instability leads to a series of events that ultimately prevent cells in muscles and other tissues from acting normally, leading to the features of the condition. The exact functions of these genes in not well understood. The DMPK gene may play a role in communication within cells, specifically in cells of the heart, brain, and skeletal muscles. The CNBP gene gives directions to make a protein found mainly in cells of the heart and skeletal muscles, where it is thought to regulate the activities of other genes.
Source: GARD

Question: What are the treatments for Myotonic dystrophy ?
Answer: What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers and scooters can help as muscle weakness progresses. There are also medications that can lessen the myotonia. Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants. Other symptoms of myotonic dystrophy can also be treated. Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function. Cataracts can be surgically corrected.
Source: GARD