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Muscular dystrophy Reference – Symptoms, Diagnosis, Treatments
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Muscular dystrophy Reference – Symptoms, Diagnoses, Treatments
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Muscular dystrophy-From Wikipedia, the free encyclopedia
Muscular Dystrophy Classification & external resources ICD-10 G71.0 ICD-9 359.0-359.1 MedlinePlus 001190 eMedicine orthoped/418 Muscular Dystrophy is a genetic condition that describes over 20 genetic and hereditary muscle diseases.[1] Of these, nine types are formally declared to be Muscular Dystrophy[2] and the remaining are generally classified as muscular dystrophy. Muscular Dystrophy is characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue [3]. In some forms of muscular dystrophy, cardiac and smooth muscles are affected. Muscular dystrophy is the most well known of hereditary diseases.
Contents 1 Genetic cause 2 Symptoms 3 Diagnosis 4 Prognosis 5 Treatment 6 Research Projects 6.1 Experimental Drugs 7 Types of Muscular Dystrophy 8 Neuromuscular diseases 9 History 10 Notes 11 References 12 External links
Genetic cause These conditions are inherited, and the different muscular dystrophies follow various inheritance patterns.
The most well-known type, Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. In males (who have only one X chromosome) one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes) a mutation must generally be present in both copies of the gene to cause the disorder (relatively rare exceptions, manifesting carriers, do occur due to dosage compensation/X-inactivation). Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In about two thirds of DMD cases, an affected male inherits the mutation from a mother who carries one altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. Females who carry one copy of a DMD mutation may have some signs and symptoms related to the condition (such as muscle weakness and cramping), but these are typically milder than the signs and symptoms seen in affected males.
The most common forms of muscular dystrophy are Duchenne muscular dystrophy and Becker's muscular dystrophy This form is caused by mutations of the gene for the dystrophin protein and leads to an overabundance of the enzyme creatine kinase. The dystrophin gene is the second largest gene in mammals.
Symptoms Principal symptoms include:
Progressive Muscular Wasting (weakness) Poor Balance Frequent Falls Walking Difficulty Waddling Gait Calf Pain Limited Range of Movement Muscle Contractures Drooping Eyelids (ptosis) Gonadal Atrophy Scoliosis (curvature of the spine) Inability to walk Some types of Muscular Dystrophy can affect the heart, causing cardiomyopathy or arrhythmias.
Diagnosis The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. In some cases, a DNA blood test may be all that is needed.
A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.
Prognosis The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
Treatment There is no known cure for muscular dystrophy. Inactivity (such as bed-rest and even sitting for long periods) can worsen the disease. Physical therapy and orthopedic instruments (e.g., wheelchairs, standing frames) may be helpful.
There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures (a condition when an individual with a muscular dystrophy grows and the muscles don't move with the bones and can easily be slowed down and/or make the individuals body straighter by daily physical therapy), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine.
Research Projects A grid computing-based research project called "Help Cure Muscular Dystrophy" was launched on December 19, 2006 by Décrypthon (a collaboration between French Muscular Dystrophy Association, French National Center for Scientific Research and IBM).
The Jain Foundation is involved in research into Miyoshi myopathy or LGMD2B, a form of Distal muscular dystrophy.[4]
Experimental Drugs MYO-029 is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy. Myostatin is a protein that inhibits the growth of muscle tissue, MYO-029 is a recombinant human antibody designed to bind and inhibit the activity of myostatin.[5] A recent study was completed by Wyeth in Collegeville, PA. The results of the study have not yet been made public, but it is one of the few known drugs in development for the treatment for muscular dystrophy.
Types of Muscular Dystrophy Becker's muscular dystrophy- age at onset: two to 16 years; symptoms are almost identical to Duchenne but less severe; progresses more slowly than Duchenne; survival into middle age. Congenital muscular dystrophy - age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span. Duchenne muscular dystrophy - age at onset: two to six years; symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare. However recent advances in medical care has caused the survival age to increase significantly. Distal muscular dystrophy - age at onset: 40 to 60 years; symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progress is slow; rarely leads to total incapacity. Emery-Dreifuss muscular dystrophy - age at onset: childhood to early teens; symptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progress is slow; sudden death may occur from cardiac problems Facioscapulohumeral muscular dystrophy - age at onset: teens to early adults; symptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progress is slow, with periods of rapid deterioration; life span may be many decades after onset. Limb-girdle muscular dystrophy - age at onset: late childhood to middle age; symptoms include weakness and wasting, affecting shoulder girdle and pelvic girdle first; progress is slow; death is usually due to cardiopulmonary complications. Myotonic muscular dystrophy - age at onset: 20 to 40 years; symptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first; progress is slow, sometimes spanning 50 to 60 years. Oculopharyngeal muscular dystrophy - age at onset: 40 to 70 years; symptoms affect muscles of eyelids and throat causing weakening of throat muscles, which in time causes inability to swallow and emaciation from lack of food; progress is slow.
Neuromuscular diseases Diseases with some similarities to muscular dystrophy:
Spinal Muscular Atrophies:
Amyotrophic Lateral Sclerosis, ALS, or Lou Gehrig's Disease Infantile Progressive Spinal Muscular Atrophy, SMA Type 1 Intermediate Spinal Muscular Atrophy, SMA Type 2 Juvenile Spinal Muscular Atrophy, SMA Type 3 Adult Spinal Muscular Atrophy, SMA Type 4 Inflammatory Myopathies:
Dermatomyositis Polymyositis Diseases of Peripheral Nerve:
Charcot-Marie Tooth Disease DeJerine-Sottas Disease Friedreich's Ataxis Diseases of the Neuromuscular Junction:
Myasthenia Gravis Lambert-Eaton Syndrome Metabolic Diseases of the Muscle:
Acid Maltase Deficiency Carnitine Deficiency Carnitine Palmityl Transferase Deficiency Debrancher Enzyme Deficiency Lactate Dehydrogenase Deficiency Mitochondrial Myopathy Myoadenylate Deaminase Deficiency Phosphorylase Deficiency Phosphofructokinase Deficiency Phosphoglycerate Kinase Deficiency Less Common Myopathies:
Central Core Disease Hyperthyroid Myopathy Myotonia Congenita Myotubular Myopathy Nemaline Myopathy Paramyotonia Congenita Periodic Paralysis - Hypokalemic - Hyperkalemic
History The first historical account of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that caused progressive weakness in boys. Six years later, another scientist reported on two brothers who developed generalized weakness, muscle damage, and replacement of damaged muscle tissue with fat and connective tissue. At that time the symptoms were thought to be signs of tuberculosis.
In the 1850s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of 13 boys with the most common and severe form of the disease (which now carries his name — Duchenne muscular dystrophy). It soon became evident that the disease had more than one form, and that these diseases affected people of either sex and of all ages.
Notes GeneTests at NIH/UW dbmd Help Cure MD - Research at worldcommunitygrid.org Muscular Dystrophy Association National Institute of Neurological Disoders and Stroke MedlinePlus Encyclopedia 001190 Muscular dystrophy, Duchenne and Becker types, Genetics Home Reference at NLM
References ^ Muscular Dystrophy Campaign Retrieved 9 April 2007. ^ Health and Disease Information A to Z, Penn State Hershey Medical Center, March 10, 2007 ^ Emery AE (2002). "The muscular dystrophies". Lancet 359 (9307): 687-695. PMID 11879882. ^ Jain Foundation Inc: Research into Miyoshi/LGMD2B ^ http://www.medicalnewstoday.com/medicalnews.php?newsid=20441 ..
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