SMA quiz: Genetics, diagnosis, and treatment

Mutations in which gene primarily cause most cases of SMA?

IGHMBP2 gene

SMN1 gene

UBA1 gene

VAPB gene

None

When is genetic testing for SMA recommended?

When an individual shows muscle weakness or other symptoms of SMA

If a person has a family history of SMA

During newborn screening

All of the above

None

How does the number of SMN2 gene copies correlate to the severity of SMA?

More copies are generally associated with more severe disease.

Fewer copies are generally associated with milder disease.

More copies are generally associated with milder disease.

SMN2 gene copies do not affect disease severity.

None

Which type of test is used to assess the health of muscles and motor neurons in SMA?

Electromyography (EMG)

Nerve conduction test

Genetic testing

Both electromyography (EMG) and nerve conduction test

None

Why is early diagnosis and treatment important in SMA?

It prevents the disease from developing.

It allows for early intervention, which can slow or stop disease progression.

It ensures that genetic mutations are reversed.

It eliminates the need for physical therapy.

None

How can prospective parents determine their risk of having a child with SMA?

By undergoing genetic carrier screening

By measuring their muscle strength

By a muscle biopsy

By performing an MRI scan

None

How does Evrysdi (risdiplam) work as a treatment for SMA?

It replaces the SMN1 gene through gene therapy.

It stimulates nerve regeneration in the spinal cord.

It strengthens muscle fibers directly.

It increases the production of SMN protein by the SMN2 “backup” gene.

None

Why is it important for people with SMA to be consistent with their treatment plan?

To completely cure SMA

To avoid interactions with healthcare providers

To manage symptoms, maintain mobility, and improve quality of life

To eliminate the need for physical therapy

None

What is the primary goal of disease-modifying therapies in SMA?

To cure the disorder

To slow or halt the progression of the disease

To address the symptoms without targeting the root cause

To eliminate the need for supportive therapies

None

What is the recommended approach for treating SMA?

Multidisciplinary care with various specialists

Targeting SMA at the genetic level

Emphasizing physical therapy and nutrition

Minimizing additional interventions

None

SMA quiz: Genetics, diagnosis, and treatment

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