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International Birth Defects Information Systems
Muscular Dystrophy

International Birth Defects Information Systems


Muscular Dystrophy


Topics: | Muscular Dystrophy | Becker and Duchenne | Duchenne and Becker | Dystrophia Myotonica | Muscular Dystrophy | Myotonic Dystrophy | Progressive Pseudohypertrophic D | Pseudohypertrophic Progressive D |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Finnish | French | Italian | Polish | Spanish | Ukrainian |

Notes per Visitors  
... a complex of diseases ... of hereditary muscle-destroying genetic alterations ... described under the common label of Muscular Dystrophy ... characterized by skeletal muscle weakness, protein defects, and by the death of muscle cells. Some forms ... affect cardiac and smooth muscle, as well as skeletal muscle tissue ... common type ... Muscular Dystrophy is Duchenne Muscular Dystrophy (DMD) ... due to a defect in the dystrophin protein ... affects males, with symptoms beginning between the second and sixth years of life. Becker Muscular Dystrophy (BMD) is similar to DMD ... later in life, around the tenth year ... progression is much less severe ... Emery-Dreifuss Muscular Dystrophy (EDMD) also affects boys ... in shoulders, upper arms, shins, and joints ... usually begin in the teenage years, but may be present as late as the twentyfifth year. Limb-Girdle Muscular Dystrophy (LGMD) affects both males and females ... involve mainly the shoulders, upper arms, hips, and thighs ... can be present any time from childhood through adolescents all the way until middle-aged adulthood. Other major forms ... include Fasciocapulohumeral (FSHD), Mytonic Dystrophy(MMD), and Congenital Muscular Dystrophy (CMD) ... symptoms are similar between the disorders ...

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne and Becker Types
Victor A. McKusick, OMIM, Johns Hopkins University, June 6, 2008
Visitor Comments "... for medical professionals ... is a peer reviewed paper ... not for a layperson ..."
Clinical Synopsis - Hypotonia - Waddling ... Hyporeflexia - Positive ... mental ... Calf muscle - Tight heel cords - Cardiomyopathy - Congestive - heart failure - Increased lordosis - Scoliosis - Flexion contractures - Pulmonary hypoventilation - Respiratory failure - Acute gastric - dilatation - Intestinal pseudoobstruction - Usual onset before age 6 years and death by age 20 - Susceptible to hypolalemia from vomiting, diarrhea, etc. - High serum creatine kinase - Abnormal electro cardio gram - Absent dystrophin on muscle biopsy ... Inheritance: - X-linked - Becker tardive adult benign type ... Hyporeflexia Calf and thigh cramping muscle pains ... Calf muscle enlargement ... Pelvic muscle weakness ... Cardiomyopathy late onset ... Usual onset in the 20s and 30s and survival to advance age ... High serum creatine kinase ... Abnormal ... electrocardiogram ... Abnormal dystrophin ... X - linked ...

Muscular Dystrophy Association (MDA) USA
MDA, 2007
Visitor Comments [Support Group] "... often updated ... many links to additional resources for the families and patients ... navigation very easy for the layperson."
National Chairman Jerry Lewis welcomes you to the MDA Web site! ...
... source for news and information ... searchable database ... 230 MDA clinics ... publications, ...

Duchenne Muscular Dystrophy (DMD)
National Library of Medicine
Visitor Comments "... a great starting point in beginning to understand the underlying disease process causing DMD."
Genes and disease ...
... group of muscular dystrophies characterized by the enlargement of muscles ... All are X-linked and affect mainly males - an estimated 3,500 boys worldwide ... A mouse model for DMD exists, ...

Muscular Dystrophy pages
Department of Human and Clinical Genetics, Leiden University Medical Center, March 27, 2000
Visitor Comments [for Professionals mainly]
... specifically designed for scientist performing research and / or diagnosis in Duchenne and Duchenne - like muscular dystrophies (i.e. Duchenne, Becker, Limb - Girdle muscular dystrophies). Interested non - scientist seeking information on muscular dystrophies are referred to ... the diseases ... the genes ... mutation databases ... diagnostic techniques ... research news ...

Dystrophia Myotonica 1
Victor A. McKusick, OMIM, Johns Hopkins University, May 16, 2008
Visitor Comments [for Professionals mainly]
Clinical Synopsis ... Myotonia ... Weakness ... Wasting, especially temporal, neck, and facial ... Cataract ... Frontal balding ... Hypogonadism, testicular atrophy ... Uncoordinated uterine contraction ... [Cardiac] Conduction defects, especially atrial arrhythmias and heart block ... Mild cognitive deterioration in adults ... Cholelithiasis ... Recurrent intestinal pseudoobstruction ... Swallowing and speech disability ... Electromyography shows myotonic discharges ... CTG expansion in the DMPK gene ... Autosomal dominant with anticipation ... CONGENITAL MYOTONIC DYSTROPHY: - Polyhydramnios - Reduced fetal movements - Hypotonia - Severe mental retardation - Respiratory distress - Poor feeding - Bilateral facial weakness - Absence of myotonia in infancy ...

Myotonic Dystrophy Fact Sheet
Muscular Dystrophy Association, June 21, 2007
What is Muscular Dystrophy?
There are a number of different types of muscular dystrophy. They are muscle diseases which have three features in common; they are hereditary, they are progressive; and each causes a characteristic, selective pattern of muscle wasting and weakness. This fact sheet deals only with Myotonic Dystrophy ... Mytonic dystrophy is the most common adult form of muscular dystrophy ... caused by a defective gene ... muscle weakness is accompanied by myotonia (delayed relaxation of muscles after contraction) ... Mytonic dystrophy shows an early pattern of muscle wasting that is unique among the major muscular dystrophies. The first muscles to be affected are those of the face neck, hands, forearms, and feet (as opposed to the hip and shoulder muscles in the other dystrophies). Why is Myotonic Dystrophy called "multisystemic"? ... affect the tissues and organs of many body systems ... mytonic dystrophy may present itself in ... a "bewildering variety of ways" ... includes cardiac disease, cataracts, testicular atrophy, respiratory impairment and adverse reactions to anesthesia, difficulty I swallowing (dysphagia) and other gastrointestinal tract involvement, mental disorders (including mental retardation), excessive output of insulin and abnormal carbohydrate metabolism, and excessive sleeping ... age of onset? Fifty percent of those with the disorder show visible signs by about twenty years of age, ... significant number do not develop clear cut symptoms until after age fifty ... also less common form of myotonic dystrophy with onset in infancy ... The course of myotonic dystrophy varies too widely ... Congenital Myotonic Dystrophy? As the name indicates, congenital myotonic dystrophy is present at birth, almost invariably in infants whose mothers have cases of myotonic dystrophy so mild they are unaware of them ... In the newborn period, an affected infant is profoundly weak, has difficulty which sucking and swallowing, and may have severe respiratory difficulties. Myotonia is not a feature of the condition at this stage ...

Muscular Dystrophy Association Web Sites
European Alliance of Muscular Dystrophy Associations
Visitor Comments [Finnish] [Italian] [Polish] [French]
Australian ... Canada ... Finnish ... Italian ... The Netherlands ... Polish ... South African ... Great Britain and Northern Ireland ... USA ...

Muscular Dystrophy Association | Espanol
Asociacion de la Distrofia Muscular, April 27, 2007
Visitor Comments [Spanish]
MDA En Espanol
Bienvenido a "MDA en Espanol", ... que la Asociacion de la Distrofia Muscular es lider mundial en la prestacion de servicios e investigacion para las personas aquejadas con mas de 40 enfermedades neuromusculares ...
Jerry Lewis, Lider Nacional

Muscular Dystrophy
I.B.I.S. Birth Defects, February 5, 2002
Visitor Comments [Ukrainian]
Factsheet in Ukrainian

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Last Updated: 2008/6/11

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American Medical Association