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Spinal Muscular Atrophy (SMA) Test

Spinal Muscular Atrophy Screening in Kenya

Spinal Muscular Atrophy is an inherited disorder that causes weak muscles resulting in problems with movement. The Spinal Muscular Atrophy genetic test determines if one is a carrier of the defective gene that causes Spinal Muscular Atrophy (SMA). This test also diagnoses SMA disease.

Spinal Muscular Atrophy (SMA)

Kenya Spinal Muscular Atrophy test

Types of SMA

SMA occurs in different forms.

Type 1 SMA is the most severe form of SMA and develops in babies aged 6 months old or less. For a long period of time, babies with type 1 SMA rarely lived beyond the first few years of life. However, recent advances in diagnosis and treatment have led to increased life expectancy.

Type 2 SMA is less severe than type 1 and develops in babies aged 7 to 18 months old. Type 2 children can survive into adulthood and lead long, fulfilling lives.

Type 3 SMA is the least severe type and occurs after 18 months of age. Type 3 SMA does not usually affect life expectancy.

Type 4 SMA affects adults and is associated with mild problems. Type 4 SMA does not usually affect life expectancy.



Symptoms of SMA

Weak suck and cry.

Breathing difficulties.

Twitching or shaking muscles (tremors).

Floppy arms and legs.

Problems with movement including difficulty sitting up, crawling or walking.

Bone and joint problems – such as an unusually curved spine (scoliosis).

Swallowing problem.

Who should Get Tested?

Spinal Muscular Atrophy screening is recommended for the following people:

Any person with the above symptoms.

Couples planning to start their families and want to know about their carrier status.

Any individual or couple going through assisted reproduction, including IVF.

Family or personal history of SMA genetics and inheritance.

People with a family history of a genetic mutation.

High-risk population groups for specific diseases.

Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease.

Any individual wishing to know more about their genetic background.

Sperm and oocyte donors, and recipients of sperm or oocyte donation.



Required Samples

A simple cheek swab sample is needed.

mouth swab DNA test Kenya

Turnaround Time

Results come out in 2-3 weeks

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