User:Mr. Ibrahem/Duchenne muscular dystrophy

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Duchenne muscular dystrophy
Microscopic image of the calf muscle from a person with Duchenne muscular dystrophy. Cross section of muscle shows extensive replacement of muscle fibers by fat cells.
SpecialtyMedical genetics, pediatrics
SymptomsMuscle weakness, trouble standing up, scoliosis[1][2]
Usual onsetAround age 4[1]
CausesGenetic (X-linked recessive)[2]
Diagnostic methodGenetic testing[2]
TreatmentPhysical therapy, braces, surgery, assisted ventilation[1][2]
PrognosisAverage life expectancy 26[3]
Frequency1 in 5,000 males at birth;[2] much rarer in females[4]

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys.[2] Muscle weakness usually begins around the age of four, and worsens quickly.[1] Muscle loss typically occurs first in the thighs and pelvis followed by the arms.[2] This can result in trouble standing up.[2] Most are unable to walk by the age of 12.[1] Affected muscles may look larger due to increased fat content.[2] Scoliosis is also common.[2] Some may have intellectual disability.[2] Females with a single copy of the defective gene may show mild symptoms.[2]

The disorder is X-linked recessive.[2] About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation.[2] It is caused by a mutation in the gene for the protein dystrophin.[2] Dystrophin is important to maintain the muscle fiber's cell membrane.[2] Genetic testing can often make the diagnosis at birth.[2] Those affected also have a high level of creatine kinase in their blood.[2]

Although there is no known cure, physical therapy, braces, and corrective surgery may help with some symptoms.[1] Assisted ventilation may be required in those with weakness of breathing muscles.[2] Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells.[1]

DMD affects about one in 5,000 males at birth.[2] It is the most common type of muscular dystrophy.[2] The average life expectancy is 26;[3] however, with excellent care, some may live into their 30s or 40s.[2] Gene therapy, as a treatment, is in the early stages of study in humans.[2]

References[edit]

  1. ^ a b c d e f g "NINDS Muscular Dystrophy Information Page". NINDS. March 4, 2016. Archived from the original on 30 July 2016. Retrieved 12 September 2016.
  2. ^ a b c d e f g h i j k l m n o p q r s t u v w "Muscular Dystrophy: Hope Through Research". NINDS. March 4, 2016. Archived from the original on 30 September 2016. Retrieved 12 September 2016.
  3. ^ a b Lisak, Robert P.; Truong, Daniel D.; Carroll, William; Bhidayasiri, Roongroj (2011). International Neurology. Wiley. p. 222. ISBN 9781444317015.
  4. ^ Nozoe KT, Akamine RT, Mazzotti DR, Polesel DN, Grossklauss LF, Tufik S (2016). "Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports". Sleep Sci. 9 (3): 129–133. doi:10.1016/j.slsci.2016.07.004. PMC 5241604. PMID 28123647.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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