Question

What is the incidence and prevalence of Spinal Muscle Atrophy (SMA) Type 1 and Type 2?

Discuss at least 2 complications and potential outcomes for each type. Review several treatment options that are new for these children?

Develop 3 nursing diagnosis with interventions for a child with SMA Type 1, infantile-onset. What nursing diagnosis would you use for this child and family?

Answer 1

A. Incidence rates of 5.83 per 100,000 live births for SMA type I, 2.66 per 100,000 live births for type II and 1.20 per 100,000 live births for type III. This implied that SMA type I, II and III constituted 60%, 27% and 12% of allSMA cases, respectively.

B. Type 1 SMA progresses rapidly, with the weakening of muscles leading to frequent respiratory infections and usually death by the age of 2. Infants with SMA type 1 can never sit

People with SMA II are not able to stand or walk unaided. Other signs andsymptoms may include a tremor of the fingers, breathing issues, feeding difficulties and skeletal abnormalities (such as scoliosis and hip dislocation).

The recent discovery of the genetic cause of SMA has led to the development of two new treatment options — a gene replacement therapycalled Zolgensma (previously AVXS-101) and a drug called nusinersen (brand name Spinraza). Both have shown promising results.

Nursing interventions acc. to ICNP:
— monitoring of the breathing status (capacity)
— encouraging the use of breathing or curettage
techniques+ chest physiotherapy

— oxygen therapy + coperration with
the doctor
Evaluation of activities:
— correct breath,
— corect gas exchange,
— discomfort reduced.

The differential diagnosis of SMAincludes congenital musculardystrophy, congenital myopathy, congenital neuropathy (eg, congenital hypomyelination neuropathy), disorders of carbohydrate metabolism, myasthenia gravis, and ALS (especially juvenile forms)