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| ... 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
 "... 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
[Support Group] "... often updated ... many links to additional resources for the families and patients ... navigation very easy for the layperson."
Families are at the heart of MDA's mission. We wake up every morning to create more hope and answers for families living with muscular dystrophy and related neuromuscular diseases that take away physical strength and mobility. We fund groundbreaking research for promising treatments and provide families with the highest quality care from the best doctors in the country.
Duchenne Muscular Dystrophy (DMD)
National Library of Medicine
"... 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
[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
[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
What is Muscular Dystrophy?
Muscular dystrophy is one form of neuromuscular disorder that refers to a group of medical conditions that affect the nervous system, muscles, or both. These disorders can result in weakness, wasting, or degeneration of muscles, and can cause a variety of symptoms such as difficulty with movement, breathing, and swallowing.
Muscular Dystrophy Australia is an organisation that supports individuals and families affected by neuromuscular disorders in Australia. We provide resources, advocacy, and funding for research to improve the lives of those living with these conditions. Specifically, Muscular Dystrophy Australia focuses on supporting people with muscular dystrophy and related neuromuscular conditions. What they all have in common is progressive muscle weakness and loss of muscle mass.
European Alliance of Neuromuscular Disorders Associations
EAMDA is the European Alliance of Neuromuscular Disorders Associations and works to support and improve the quality of everyday life of people with neuromuscular disorders (NMDs).
Muscular Dystrophy
I.B.I.S. Birth Defects, February 5, 2002
[Ukrainian]
Factsheet in Ukrainian
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Last Updated: 2023/07/19
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