What is Spinocerebellar Ataxias?

 

Spinocerebellar Ataxias


Spinocerebellar Ataxia (SCA) is a genetic disorder which is progressive, degenerative, and often fatal. The clinical marker of all SCAs is a progressive loss of balance and coordination accompanied by slurred speech. The mobility and communicative skills of individuals with an SCA are restricted, which strongly impairs quality of life, and many SCAs lead to premature death.

Genetically, the SCAs fall into two major groups: those caused by dynamic repeat expansion mutations (repeat expansion SCAs) and those caused by nonrepeating mutations. Further, repeat expansions are also a major cause of non-SCA inherited neurological diseases. There are at least 12 repeat expansion SCAs. Six of these diseases—SCA1, SCA2, SCA3/Machado–Joseph disease, SCA6, SCA7, and SCA17 are caused by translated CAG repeat expansion mutations that encode stretches of pure glutamine in the respective disease proteins; these diseases are thus referred to as polyglutamine SCAs.

As per DelveInsight’s estimates, SCA3 was the second most common subtype of Spinocerebellar Ataxia after others (including all the subtypes other than taken into consideration in the DelveInsight’s forecast model) in the United States, Germany, France, the United Kingdom and Japan. However, in Italy SCA2 was the second most common subtype after others. Also, in Spain the scenario was a bit different with SCA3 being the most common subtype.


Source:-  Spinocerebellar Ataxias Market

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