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8/3/2019 Research Paper First Level Draft

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Alejandro Rey IV St. Daniel

Spinocerebellar Degeneration on Children

I. Spinocerebellar DegenerationSpinocerebellar degeneration is a degenerative disease with multiple types. It is a

dominant inherited disease under Ataxia. It is best described as a disease similar to dementia

but does not only reduce mental ability but also physical ability. Also, unlike dementia, this

disease is like a slow time bomb. It reduces all of your physical abilities by

deteriorating/decreasing the size of the cerebellum and eventually becomes the cause of death.

In a breakdown of words Spinocerebellar degeneration means spino meaning the spine of a

human person, cerebellar, the backmost lower part of the brain , and lastly, degeneration

which means deterioration or degradation of abilities. So Spinocerebellar degeneration

literally means the degradation of the cerebellum and the spine. There are 36 types of

Spinocerebellar Degeneration where each can be considered as a disease on its own.

Spinocerebellar degeneration roots from ataxia. Ataxia is basically clumsiness of

movement or loss of coordination which is not caused by muscle weakness. Spinocerebellar

degeneration is under the classification of hereditary dominant ataxia.

ATAXIA

SPORADIC HEREDITARY

DOMINANT RECESSIVEy Spinocerebellar Ataxia

(SCA) 1-36

y Episodic Ataxia 1-7y Late-onset Episodic

Ataxiay DRPLAy Fragile X - associated

tremor

Ataxia syndrome(FXTAS)

y Other DominantAtaxias

y Acute CerebellarAtaxia

y Friedreich's Ataxiay Ataxia-Telangiectasiy AOA1 & 2y

ARSACSy Autosomal Recessiv

Cerebellar

y Ataxia (ARCA)y AVEDy MIRASy MSS

y Idiopathic Late-onsetCerebellarAtrophy (ILOCA)

y OlivopontocerebellarAtrophy(OPCA) is being replaced

withSporadic Cerebellar

Degeneration(SCD)

y Multiple System Atrophy(MSA)

y Striatonigral Degeneration(SND)

y Shy Drager Syndrome(SDS)

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The most common type of ataxia is Freidrichs Ataxia. It is a progressive type of ataxia.The patient experiences dysarthria, deformities of the pes cavus, and disability of the lower limb

region which calls for the use of a wheelchair. Another type of ataxia is Ataxia Telangiectasia oroculomotor disorders. It involves disorders of the movement of the eyes. And the most common

and noticeable effect of this disease is Rapid EyeMovement or REM.

The disease has a total of 36 known types. Each type is characterized by a specificgenetic disorder not present in others. Spinocerebellar degeneration is also known as

Spinocerebellar Ataxia or SCA. Each type of SCA is has a number assigned in the order in whichthe gene was identified. i.e. SCA1 which gene was discovered in 1993, SCA31 which gene was

discovered in 2009. But only twelve of the types of SCA are available for genetic testing, namely,SCA1, SCA2, SCA3, SCA5, SCA6, SCA7, SCA8, SCA10, SCA12, SCA13, SCA14 and SCA17.

Most SCA cases are not detected at childbirth, so a person will not know if he/she has the

disease. However some cases of SCA start out at an early age, and in some cases SCA start at avery old age. One of the first symptoms of having SCA is frequent loss of balance and poor

eye-hand coordination, in other words, the person experiences ataxia. And in every type ofSCA there is a specific symptom not present in other types, hence the need to assign numbers to

the types of SCA. Another symptom of SCA is loss ofgait. Gait is the movement of the limbs,joints bones and muscles. Difficulty in walking which afterwards leads to the use of a wheelchair

and deformity of the spine are physical symptoms of SCA. The patient can also experienceirregular movement such as REM or Rapid Eye Movement. Other symptoms experienced by

those who have SCA or any Sporadic or hereditary ataxia include tremor, stiffness, depression,spasticity and sleep disorders, in addition to their ataxia.

There are many clinical features of SCA and it depends on the type of SCA a person has.Usually among adults the onset is as early as 18 years old up to 40 years old in estimation. While

among children symptoms appear as early as 1-2 years old when the child starts to walk or crawl.System degenerations such as SCA focus only on parts of the brain. Rarely has there been a case

where the brain is fully affected by system degeneration. While the most common feature or thecentral feature is that all the symptoms and conditions experienced by different patients are

progressive.