Muscular Dystrophy: Difference between revisions
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== Introduction == | == Introduction == | ||
The term "muscular dystrophy" incorporates an assortment of hereditary disorders that lead to progressive, generalized disease of the muscle prompted by inadequate or missing glycoproteins in the muscle cell plasma membrane. Muscular dystrophy is a non-communicable disorder with abundant variations. Each has its pattern of inheritance, onset period, and the rate at which muscle is lost. Alterations in specific genes cause different representations of this disease<ref>LaPelusa A, Kentris M. [https://www.ncbi.nlm.nih.gov/books/NBK560582/ Muscular Dystrophy]. StatPearls [Internet]. 2020 Jul 21.Available from: https://www.ncbi.nlm.nih.gov/books/NBK560582/<nowiki/>(accessed 24.2.2021)</ref>. | The term "muscular dystrophy" incorporates an assortment of hereditary disorders that lead to progressive, generalized disease of the muscle prompted by inadequate or missing glycoproteins in the muscle cell plasma membrane. Muscular dystrophy is a non-communicable disorder with abundant variations. Each has its pattern of inheritance, onset period, and the rate at which muscle is lost. Alterations in specific genes cause different representations of this disease<ref name=":0">LaPelusa A, Kentris M. [https://www.ncbi.nlm.nih.gov/books/NBK560582/ Muscular Dystrophy]. StatPearls [Internet]. 2020 Jul 21.Available from: https://www.ncbi.nlm.nih.gov/books/NBK560582/<nowiki/>(accessed 24.2.2021)</ref>. | ||
The muscular dystrophies are characterized by progressive muscular atrophy and weakness. In most varieties the muscles of the limb | The muscular dystrophies are characterized by progressive muscular atrophy and weakness. In most varieties the muscles of the limb girdles (the pelvic and shoulder muscles) are involved<ref>Britannica [https://www.britannica.com/science/muscle-disease/The-muscular-dystrophies Muscular Dystrophy] Available from: https://www.britannica.com/science/muscle-disease/The-muscular-dystrophies<nowiki/>(accessed 24.2.2021)</ref>. Over time, people with MD lose the ability to do things like walk, sit upright, breathe easily, and move their arms and hands<ref>Kidz health MD fact sheet Available from: https://kidshealth.org/en/parents/md-factsheet.html (last accessed 24.2.2021)</ref>. | ||
== | There is no cure for MD, but doctors are working on improving muscle and joint function and slowing muscle deterioration so people with MD can live as actively and independently as possible. | ||
== Eitiology == | |||
Muscular dystrophy most often results from defective or absent glycoproteins in the muscle membrane. Each type of muscular dystrophy results from different gene deletions or mutations, causing various enzymatic or metabolic defects. | |||
* In 1986, researchers discovered the gene that, when defective or flawed, causes Duchenne muscular dystrophy. The muscle protein associated with this gene was named dystrophin. The dystrophin gene is the largest in the human genome, with 79 exons. The dystrophin gene is subject to a high rate of spontaneous mutations because of its enormous size (>2 × 106 bases)<ref name=":0" />. | |||
* Duchenne muscular dystrophy occurs when that gene fails to make dystrophin. Becker muscular dystrophy occurs when a different mutation in the same gene results in some dystrophin, but it's either not enough or it's poor in quality. Scientists have discovered and continue to search for the genetic defects that cause other forms of muscular dystrophy. | |||
* Most of the muscular dystrophies are a form of inherited disease called X-linked disorders or genetic diseases that mothers can transmit to their sons even though the mothers themselves are unaffected by the disease<ref>WebMD [https://www.webmd.com/children/understanding-muscular-dystrophy-basics?page=-1281 MD] Available from: https://www.webmd.com/children/understanding-muscular-dystrophy-basics?page=-1281<nowiki/>(accessed 24.2.2021)</ref>. | |||
== Epidemiology == | |||
Most Common Childhood Muscular Dystrophy: Duchenne. | |||
Most Common Adult Muscular Dystrophy: Myotonic. | |||
Prevalence Of Muscular Dystrophy (General Population): 16 to 25.1 per 100,000. | |||
Frequency Of Muscular Dystrophy (General Population): 1 per 3,000 to 8,000. | |||
Incidence Of Muscular Dystrophy (Male Births): 1 per 5,000 or 200 per 1,000,000 | |||
== Sub Heading 3 == | == Sub Heading 3 == | ||
Revision as of 07:09, 24 February 2021
Original Editor - Lucinda hampton
Top Contributors - Lucinda hampton, Jess Bell, Robin Tacchetti, Rucha Gadgil, Vidya Acharya, Kehinde Fatola, Shreya Pavaskar, Olajumoke Ogunleye, Tarina van der Stockt, Kim Jackson and Uchechukwu Chukwuemeka
Introduction[edit | edit source]
The term "muscular dystrophy" incorporates an assortment of hereditary disorders that lead to progressive, generalized disease of the muscle prompted by inadequate or missing glycoproteins in the muscle cell plasma membrane. Muscular dystrophy is a non-communicable disorder with abundant variations. Each has its pattern of inheritance, onset period, and the rate at which muscle is lost. Alterations in specific genes cause different representations of this disease[1].
The muscular dystrophies are characterized by progressive muscular atrophy and weakness. In most varieties the muscles of the limb girdles (the pelvic and shoulder muscles) are involved[2]. Over time, people with MD lose the ability to do things like walk, sit upright, breathe easily, and move their arms and hands[3].
There is no cure for MD, but doctors are working on improving muscle and joint function and slowing muscle deterioration so people with MD can live as actively and independently as possible.
Eitiology[edit | edit source]
Muscular dystrophy most often results from defective or absent glycoproteins in the muscle membrane. Each type of muscular dystrophy results from different gene deletions or mutations, causing various enzymatic or metabolic defects.
- In 1986, researchers discovered the gene that, when defective or flawed, causes Duchenne muscular dystrophy. The muscle protein associated with this gene was named dystrophin. The dystrophin gene is the largest in the human genome, with 79 exons. The dystrophin gene is subject to a high rate of spontaneous mutations because of its enormous size (>2 × 106 bases)[1].
- Duchenne muscular dystrophy occurs when that gene fails to make dystrophin. Becker muscular dystrophy occurs when a different mutation in the same gene results in some dystrophin, but it's either not enough or it's poor in quality. Scientists have discovered and continue to search for the genetic defects that cause other forms of muscular dystrophy.
- Most of the muscular dystrophies are a form of inherited disease called X-linked disorders or genetic diseases that mothers can transmit to their sons even though the mothers themselves are unaffected by the disease[4].
Epidemiology[edit | edit source]
Most Common Childhood Muscular Dystrophy: Duchenne.
Most Common Adult Muscular Dystrophy: Myotonic.
Prevalence Of Muscular Dystrophy (General Population): 16 to 25.1 per 100,000.
Frequency Of Muscular Dystrophy (General Population): 1 per 3,000 to 8,000.
Incidence Of Muscular Dystrophy (Male Births): 1 per 5,000 or 200 per 1,000,000
Sub Heading 3[edit | edit source]
Resources[edit | edit source]
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References[edit | edit source]
- ↑ 1.0 1.1 LaPelusa A, Kentris M. Muscular Dystrophy. StatPearls [Internet]. 2020 Jul 21.Available from: https://www.ncbi.nlm.nih.gov/books/NBK560582/(accessed 24.2.2021)
- ↑ Britannica Muscular Dystrophy Available from: https://www.britannica.com/science/muscle-disease/The-muscular-dystrophies(accessed 24.2.2021)
- ↑ Kidz health MD fact sheet Available from: https://kidshealth.org/en/parents/md-factsheet.html (last accessed 24.2.2021)
- ↑ WebMD MD Available from: https://www.webmd.com/children/understanding-muscular-dystrophy-basics?page=-1281(accessed 24.2.2021)
