Does spinal muscular atrophy affect speech?

SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c).

What is SMA treatment?

In December 2016, the FDA approved nusinersen (Spinraza), the first drug approved to treat children (including newborns) and adults with SMA. Nusinersen is an antisense oligonucleotide (ASO) designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency.

What is SMA talk?

SMA Talks is a monthly series where Sgt. Maj. of the Army Michael Grinston discusses topics that directly impact the day-to-day business of the U.S. Army.

Does SMA affect intelligence?

SMA in infancy and early childhood is associated with worse outcomes, while patients who develop symptoms later in childhood or in adolescence usually have a more positive prognosis. SMA does not affect sensory nerves or intellect, but it has been observed that many patients with SMA are highly intelligent.

Is atrophy a disease?

Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy ) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement.

Can SMA cure?

As yet, there is no complete cure for SMA. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA — a gene replacement therapy called Zolgensma, and two drugs, called nusinersen (Spinraza) and risdiplam (Evyrsdi).

Does SMA affect the heart?

SMA is a debilitating neurological disease that leads to wasting away of muscles throughout the body. Historically, scientists and physicians believed that SMA only affected skeletal muscles; however, new data suggests that this genetic disease may also impact the heart.

How is Spinal muscular atrophy (SMA) treated?

In August 2020, the FDA approved the orally-administered drug risdiplam (Evrysdi) to treat patients age two months of age and older with SMA. Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy.

How is SMA diagnosed and treated?

How is SMA diagnosed? A blood test is available to look for deletions or mutations of the SMN1 gene. This test identifies at least 95 percent of SMA Types I, II, and III and may also reveal if a person is a carrier of a defective gene that could be passed on to children.

What is the pathophysiology of SMA?

SMA type I, also called Werdnig-Hoffmann disease or infantile-onset SMA, is evident usually before 6 months of age. The most severely affected infants (SMA type 0 or IA) have reduced movements even in utero and are born with contractures and breathing difficulties, with death occurring in the first year of life without treatment.

What is the SMA type III test?

This test identifies at least 95 percent of SMA Types I, II, and III and may also reveal if a person is a carrier of a defective gene that could be passed on to children.