| Muscular Dystrophy Classification and external resources |
|
| ICD-10 | G71.0 |
|---|---|
| ICD-9 | 359.0-359.1 |
| MedlinePlus | 001190 |
| eMedicine | orthoped/418 |
| MeSH | D009136 |
Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings G00-G99 - Diseases of the Nervous system (G00-G09 Inflammatory diseases of the Central nervous system ( Bacterial meningitis The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. MedlinePlus, with the MedlinePlus Medical Encyclopedia, is a website network containing Health information from the world's largest medical Library eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely two medical doctors Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books Genetics (from Ancient Greek grc-Latn genetikos, “genitive” and that from grc-Latn genesis, “origin” a discipline of Biology, is Neuromuscular disease is a very broad term that encompasses many Diseases and ailments that either directly via intrinsic Muscle pathology or indirectly via [1][2] Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Skeletal muscle is a type of Striated muscle, which usually attaches to tendons Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl The cell is the structural and functional unit of all known living Organisms It is the smallest unit of an organism that is classified as living and is often called Tissue is a cellular organizational level intermediate between cells and a complete organism [3] Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss are always classified as muscular dystrophy[4] but there are more than 100 diseases in total with similarities to muscular dystrophy. Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually Becker's muscular dystrophy (also known as Benign pseudohypertrophic Muscular dystrophy) is an X-linked recessive inherited disorder characterized Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an Autosomal class of Muscular dystrophy that is similar but distinct from Duchenne muscular Congenital muscular dystrophy ( CMD) is the term used to describe Muscular dystrophy that is present at birth Facioscapulohumeral muscular dystrophy (FSHMD FSHD or FSH which is also known as Landouzy-Dejerine is an autosomal dominant form of Muscular dystrophy that initially Myotonic dystrophy (DM is a chronic, slowly progressing highly variable inherited multisystemic Disease that can manifest at any age from birth to old age Oculopharyngeal dystrophy (OPD or oculopharyngeal muscular dystrophy, is a form of Muscular dystrophy characterized in some stages by deformation of the Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the Hands or feet. Emery-Dreifuss muscular dystrophy is a condition that chiefly affects Muscles used for movement (skeletal muscles and heart ( Cardiac) muscle Most types of MD are multi-system disorders with manifestations in body systems including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs. [4]
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. For the game see 1830 (board game. Year 1830 ( MDCCCXXX) was a Common year starting on Friday (link will display Sir Charles Bell (November 1774 in Doun in Monteath Edinburgh - April 28, 1842, in North Hallow Worcestershire) was a Scottish 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. Tuberculosis (abbreviated as TB for tubercle bacillus or T u' b' erculosis Bacillus --> is a common
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). Guillaume Benjamin Amand Duchenne (born September 17, 1806 in Boulogne; died September 15, 1875) was a French Neurologist 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.
These conditions are inherited, and the different muscular dystrophies follow various inheritance patterns. The best-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. Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually A chromosome is an organized structure of DNA and Protein that is found in cells. Sex linkage is the phenotypic expression of an Allele that is related to the chromosomal sex of the individual 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). Dosage compensation is a genetic regulatory mechanism which operates to equalize the Phenotypic expression of characteristics determined by genes on the X chromosome X-inactivation (also called lyonization) is a process by which one of the two copies of the X chromosome present in Female Mammals is inactivated 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. "Heir" and "Heiress" redirect here For the men and women fragrances endorsed by Paris Hilton see Heiress (fragrance. 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. Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually 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. Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism Duchenne muscular dystrophy and Becker's muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase. Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually Becker's muscular dystrophy (also known as Benign pseudohypertrophic Muscular dystrophy) is an X-linked recessive inherited disorder characterized In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism Dystrophin is a rod-shaped Cytoplasmic Protein, and a vital part of a Protein complex that connects the Cytoskeleton of a Muscle fiber Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins Creatine kinase (CK also known as creatine phosphokinase (CPK or phosphocreatine kinase, is an Enzyme ( expressed by various tissue types [5][6] The dystrophin gene is the largest gene in humans. [7]
Principal symptoms include:
Some types of Muscular Dystrophy can affect the heart, causing cardiomyopathy or arrhythmias. Atrophy is the partial or complete Wasting away of a part of the Body. Scoliosis is a medical condition in which a person's spine is curved from side to side and may also be rotated Cardiomyopathy, which literally means "heart muscle disease" is the deterioration of the function of the Myocardium (i Dysrhythmia redirects here For the American band see Dysrhythmia (band.
The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. In Medicine, a muscle biopsy is a procedure in which a piece of Muscle tissue is removed from an Organism and examined microscopically 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.
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.
There is no known cure for muscular dystrophy. Inactivity (such as bed-rest and even sitting for long periods) can worsen the disease. Bed rest is a Doctor's prescription to spend a longer period of time in bed Physical therapy, Occupational therapy, speech therapy and orthopedic instruments (e. g. , wheelchairs, standing frames) may be helpful. A wheelchair is a wheeled Mobility device in which the user sits A standing frame (also known as a stand, stander, standing technology, standing aid, standing device, standing box,
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 individual's 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. A muscle contracture is a permanent shortening of a Muscle or Tendon in the Human body in response to continued Hypertonic stress exerted on An orthosis (sometimes called an orthesis) is a device that is applied externally to a part of the Body to correct Deformity, improve function or relieve Orthopedic surgery or orthopedics (also spelled orthopaedics) is the branch of Surgery concerned with injuries to or conditions involving the The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. Emery-Dreifuss muscular dystrophy is a condition that chiefly affects Muscles used for movement (skeletal muscles and heart ( Cardiac) muscle Myotonic dystrophy (DM is a chronic, slowly progressing highly variable inherited multisystemic Disease that can manifest at any age from birth to old age For other uses see Pacemaker (disambiguation A pacemaker (or artificial pacemaker, so as not to be confused with the heart's natural 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 but no actual long term treatment has been found. Myotonia is a symptom of a small handful of certain Neuromuscular disorders characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation Quinine (ˈkwaɪnaɪn kwɪˈniːn ˈkwiːniːn is a natural white Crystalline Alkaloid having Antipyretic (fever-reducing antimalarial, Phenytoin sodium is a commonly used Antiepileptic. Phenytoin acts to dampen the unwanted runaway brain activity seen in seizure by reducing electrical conductance among brain Mexiletine ( INN, sold under the trade name Mexitil) belongs to the Class IB anti-arrhythmic group of medicines
Occupational therapy assists the individual with MD in engaging in his/her activities of daily living (self-feeding, self-care activities, etc) and leisure activities at the most independent level possible. Occupational Therapy, often abbreviated "OT", is the "use of productive or creative activity in the treatment or rehabilitation of physically cognitively or Activities of daily living ( ADLs) are "the things we normally do in daily living including any daily activity we perform for self-care (such as feeding ourselves bathing This may be achieved with use of adapted equipment or the utilization of energy conservation techniques. Occupational therapy may also implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility. Occupational therapists also address psychosocial changes and cognitive decline which may accompany MD as well as provide support and education about the disease to the family and individual ([8]).
A grid computing-based research project called "Help Cure Muscular Dystrophy" was launched on December 19, 2006 by Décrypthon. Grid computing is a form of Distributed computing whereby a "super and virtual computer" is composed of a cluster of networked loosely-coupled World Community Grid ( WCG) is an effort to create the world's largest public computing grid to tackle scientific research projects that benefit humanity Events 324 - Licinius abdicates his position as Roman Emperor. Year 2006 ( MMVI) was a Common year starting on Sunday of the Gregorian calendar. The Jain Foundation is involved in research into Miyoshi myopathy, a form of distal muscular dystrophy and LGMD2B, a limb-girdle muscular dystrophy. Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the Hands or feet. Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the Hands or feet. Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an Autosomal class of Muscular dystrophy that is similar but distinct from Duchenne muscular [9]
MYO-029 is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy. Stamulumab (MYO-029 is an experimental Myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of Muscular dystrophy. Stamulumab (MYO-029 is an experimental Myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of Muscular dystrophy. Myostatin (formerly known as Growth differentiation factor 8) is a Growth factor that limits Muscle tissue growth i Wyeth, formerly known as American Home Products (AHP is one of the largest pharmaceutical companies in the world 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. A 2005/2006 trial was completed by Wyeth in Collegeville, PA. As of April 2007, 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.
Within the United States, the three primary federally funded organizations that focus on Muscular Dystrophy include the National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Child Health and Human Development (NICHD). The National Institute of Neurological Disorders and Stroke is a part of the U The National Institute of Arthritis and Musculoskeletal and Skin Diseases, or NIAMS, is an institute of the National Institutes of Health, an agency of the United The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD, created by congress in 1962 supports and conducts research on topics related [4]
In 1966, the Muscular Dystrophy Association began its annual Jerry Lewis MDA Telethon, which has arguably done more to raise awareness of muscular dystrophy than any other event or initiative. The Muscular Dystrophy Association ( MDA) is an organization founded in 1950 which combats Muscular dystrophy and diseases of the Nervous system The Jerry Lewis MDA Telethon is hosted by Jerry Lewis to raise money for the Muscular Dystrophy Association.
On December 18, 2001 the MD CARE Act was signed into law and amends the Public Health Service Act to provide research for the various muscular dystrophies. Events 218 BC - Second Punic War: Battle of the Trebia - Hannibal 's Carthaginian forces defeat those of the Year 2001 ( MMI) was a Common year starting on Monday according to the Gregorian calendar. The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 (MD CARE Act) amends the Public Health Service Act to provide for research with respect The Public Health Service Act is a United States federal law enacted in 1946. This law also established the Muscular Dystrophy Coordinating Committee to help focus research efforts through a coherent research strategy. The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 (MD CARE Act) amends the Public Health Service Act to provide for research with respect [10][11]
Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin. Becker's muscular dystrophy (also known as Benign pseudohypertrophic Muscular dystrophy) is an X-linked recessive inherited disorder characterized Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually [4]
Survival is usually into middle age. [12]
Age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span. Congenital muscular dystrophy ( CMD) is the term used to describe Muscular dystrophy that is present at birth
Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be pair with effects on the brain and other organ systems. A number of the forms of the congenital muscular dystrophies are caused by defects in proteins that are thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus. Lissencephaly, which literally means smooth brain, is a rare brain formation disorder characterized by the lack of normal convolutions (folds in the brain Hydrocephalus (pronunciation ˌhaɪˌdɹoʊˈsɛfələs is a term derived from the Greek words "hydro" meaning water and "cephalus" meaning head and this condition [4]
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. Duchenne muscular dystrophy ( DMD) is a severe recessive x-linked form of Muscular dystrophy that is characterized by rapid progression of muscle degeneration eventually DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s. In the early 1990s, researchers identified the gene for the protein dystrophin which, when absent, causes DMD. The dystrophin gene is the largest known gene in humans. Since the gene is on the X-chromosome, this disorder affects primarily males. Females who are carriers have milder symptoms. Sporadic mutations in this gene occur frequently, accounting for a third of cases. The remaining two-thirds of cases are inherited in a recessive pattern. 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 20 years is rare. [4]
Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton within the muscle cells, through the outer membrane of each cell, to the tissue framework that surrounds each cell. Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle. [4]
Distal muscular dystrophies' age at onset: 40 to 60 years; symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progress is slow and not life-threatening. Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the Hands or feet. [12]
Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of LGMD. Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an Autosomal class of Muscular dystrophy that is similar but distinct from Duchenne muscular [4]
Age at onset, childhood to early teens. Emery-Dreifuss muscular dystrophy is a condition that chiefly affects Muscles used for movement (skeletal muscles and heart ( Cardiac) muscle 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. [13]
FSHD initially affects muscles of the face, shoulders, and upper arms with progressive weakness. Facioscapulohumeral muscular dystrophy (FSHMD FSHD or FSH which is also known as Landouzy-Dejerine is an autosomal dominant form of Muscular dystrophy that initially Symptoms usually develop in the teenage years. Some affected individuals become severely disabled. The pattern of inheritance is autosomal dominant, but the underlying genetic defect is poorly understood. Most cases are associated with a deletion near the end of chromosome 4. [4]
LGMD's all show a similar distribution of muscle weakness, affecting both upper arms and legs. Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an Autosomal class of Muscular dystrophy that is similar but distinct from Duchenne muscular Many forms of LGMD have been identified, showing different patterns of inheritance (autosomal recessive vs. autosomal dominant). In an autosomal recessive pattern of inheritance, an individual receives two copies of the defective gene, one from each parent. The recessive LGMDs are more frequent than the dominant forms, and usually have childhood or teenage onset. The dominant LGMDs usually show adult onset. Some of the recessive forms have been associated with defects in proteins that make up the dystrophin-glycoprotein complex. [4]
Death from LGMD is usually due to cardiopulmonary complications.
Myotonic MD's age at onset: 20 to 40 years
Myotonic muscular dystrophy is the most common adult form of muscular dystrophy. Myotonic dystrophy (DM is a chronic, slowly progressing highly variable inherited multisystemic Disease that can manifest at any age from birth to old age It is marked by myotonia as well as muscle wasting and weakness. Myotonia is a symptom of a small handful of certain Neuromuscular disorders characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation Myotonic dystrophy varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, eyes, and gastrointestinal tract. Myotonic dystrophy follows an autosomal dominant pattern of inheritance. Myotonic dystrophy results from the expansion of a short repeat in the DNA sequence (CTG in one gene or CCTG in another gene). In other words, the gene defect is an abnormally long repetition of a three- or four-letter "word" in the genome. In classical genetics the genome of a Diploid Organism including Eukarya refers to a full set of chromosomes or genes in a Gamete, thereby While the exact mechanism of action is not known, this molecular change may interfere with the production of important muscle proteins. [4]
Oculopharyngeal MD's age at onset: 40 to 70 years; symptoms affect muscles of eyelids, face, and throat followed by pelvic and shoulder muscle weakness, has been attributed to a short repeat expansion in the genome which regulates the translation of some genes into functional proteins. Oculopharyngeal dystrophy (OPD or oculopharyngeal muscular dystrophy, is a form of Muscular dystrophy characterized in some stages by deformation of the In classical genetics the genome of a Diploid Organism including Eukarya refers to a full set of chromosomes or genes in a Gamete, thereby [4]