Spinal muscular atrophy

Spinal muscular atrophy (SMA) be a rare neuromuscular disorder wey dey result in de loss of motor neurons den progressive muscle wasting. E be usually diagnosed insyd infancy anaa early kiddie time den if dem lef am untreated e be de most common genetic cause of infant death. E sanso fi appear later insyd life den then get a milder course of de disease. De common feature be de progressive weakness of voluntary muscles, plus de arm, leg, den respiratory muscles be affected first. Associated problems fi include poor head control, difficulties swallowing, scoliosis, den joint contractures. 

De age of onset den de severity of symptoms dey form de basis of de traditional classification of spinal muscular atrophy into chaw types.

Spinal muscular atrophy be secof an abnormality (mutation) insyd de SMN1 gene wich dey encode SMN, a protein necessary for de survival of motor neurons. Loss of dese neurons insyd de spinal cord dey prevent signalling between de brain den skeletal muscles. Anoda gene, SMN2, be considered a disease modifying gene, since usually de more SMN2 copies be present, de milder be de course of de disease. De diagnosis of SMA be based on symptoms den confirmed by genetic testing.

Usually, de mutation insyd de SMN1 gene be inherited from both parents insyd an autosomal recessive manner, although insyd around 2% of cases e dey occur during early development (de novo). De incidence of spinal muscular atrophy worldwide dey vary from about 1 insyd 4,000 births to around 1 insyd 16,000 births, plus 1 insyd 7,000 den 1 insyd 10,000 dem commonly quote for Europe den de US respectively.

Outcomes insyd de natural course of de disease dey vary from death within a few weeks after birth insyd de most acute cases to normal life expectancy insyd de protracted SMA forms. Medications wey dey target de genetic cause of de disease dey include nusinersen, risdiplam, den de gene therapy medication onasemnogene abeparvovec. Supportive care dey include physical therapy, occupational therapy, respiratory support, nutritional support, orthopaedic interventions, den mobility support.
 References 

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 External links 

 SMA at NINDS
 SMArt Moves. Cure SMA. Retrieved 3 December 2021.


Category:Motor neuron diseases
Category:Autosomal recessive disorders
Category:Nucleus diseases
Category:Neuromuscular disorders
Category:Translated from MDWiki