Spinal Muscular Atrophy Questions & Answers

Updated: May 30, 2019
  • Author: ; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Questions & Answers

Overview

What is spinal muscular atrophy (SMA)?

What is the pathophysiology of spinal muscular atrophy (SMA)?

What is the prevalence of spinal muscular atrophy (SMA) in the US?

What is the global prevalence of spinal muscular atrophy (SMA)?

What is the mortality and morbidity associated with spinal muscular atrophy (SMA)?

What are the sexual predilections of spinal muscular atrophy (SMA)?

What is the age of onset of spinal muscular atrophy (SMA)?

Presentation

Which clinical history findings are characteristic of spinal muscular atrophy (SMA)?

Which clinical history findings are characteristic of spinal muscular atrophy (SMA) type I - acute infantile or Werdnig-Hoffman disease?

Which clinical history findings are characteristic of spinal muscular atrophy (SMA) type II - chronic infantile form?

Which clinical history findings are characteristic of spinal muscular atrophy (SMA) type III - chronic juvenile or Kugelberg-Welander syndrome?

Which clinical history findings are characteristic of spinal muscular atrophy (SMA) type IV - adult-onset form?

Which physical findings are characteristic of spinal muscular atrophy (SMA)?

Which physical findings are characteristic of spinal muscular atrophy (SMA) type I - acute infantile or Werdnig-Hoffman disease?

Which physical findings are characteristic of spinal muscular atrophy (SMA) type II - chronic infantile form?

Which physical findings are characteristic of spinal muscular atrophy (SMA) type III - chronic juvenile or Kugelberg-Welander syndrome?

Which physical findings are characteristic of spinal muscular atrophy (SMA) type IV - adult-onset form?

What are the variants of spinal muscular atrophy (SMA)?

What causes spinal muscular atrophy (SMA)?

DDX

What are the differential diagnoses for Spinal Muscular Atrophy?

Workup

Which lab test results are characteristic of spinal muscular atrophy (SMA)?

What is the role of genetic testing in the workup of spinal muscular atrophy (SMA)?

Which findings on ECG are characteristic of spinal muscular atrophy (SMA)?

What is the role of NCS in the workup of spinal muscular atrophy (SMA)?

What is the role of EMG in the workup of spinal muscular atrophy (SMA)?

What is the role of biopsy in the workup of spinal muscular atrophy (SMA)?

Which histologic findings are characteristic of spinal muscular atrophy (SMA)?

Treatment

How is spinal muscular atrophy (SMA) treated?

Where is information about spinal muscular atrophy (SMA) clinical trials found?

What is the role of surgery in the treatment of spinal muscular atrophy (SMA)?

Which specialist consultations are beneficial to patients with spinal muscular atrophy (SMA)?

Which dietary modifications are used in the treatment of spinal muscular atrophy (SMA)?

Which activity modifications are used in the treatment of spinal muscular atrophy (SMA)?

Medications

What is the role of nusinersen in the treatment of spinal muscular atrophy (SMA)?

Which medications in the drug class Antisense Oligonucleotides are used in the treatment of Spinal Muscular Atrophy?

Follow-up

How is spinal muscular atrophy (SMA) prevented?

What are the possible complications of spinal muscular atrophy (SMA)?

What is the prognosis of spinal muscular atrophy (SMA)?

What is included in patient education about spinal muscular atrophy (SMA)?