Spinal Muscle Atrophy Questions & Answers

Updated: Nov 05, 2018
  • Author: Ashish S Ranade, MBBS, MS, MRCS; Chief Editor: Jeffrey A Goldstein, MD  more...
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Questions & Answers

Overview

What is spinal muscle atrophy (SMA)?

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

What are the types of spinal muscle atrophy (SMA)?

What causes spinal muscle atrophy (SMA)?

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

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

Which age groups have the highest prevalence of spinal muscle atrophy (SMA)?

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

What are the racial predilections of spinal muscle atrophy (SMA)?

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

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

Presentation

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

How is spinal muscle atrophy (SMA) diagnosed?

Which physical findings are characteristic of type I spinal muscle atrophy (SMA)?

Which physical findings are characteristic of type II spinal muscle atrophy (SMA)?

Which physical findings are characteristic of type III spinal muscle atrophy (SMA)?

What is the prevalence of a long C-shaped thoracolumbar scoliotic curve in spinal muscle atrophy (SMA)?

What conditions are included in the differential diagnoses of spinal muscle atrophy (SMA) when pseudohypertrophy of the calf is present?

What is the prevalence of tongue fasciculations in spinal muscle atrophy (SMA)?

DDX

Which conditions are included in the differential diagnoses of spinal muscle atrophy (SMA)?

What are the differential diagnoses for Spinal Muscle Atrophy?

Workup

What is the role of lab testing in the workup of spinal muscle atrophy (SMA)?

What is the role of imaging studies in the workup of spinal muscle atrophy (SMA)?

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

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

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

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

Treatment

What can be done to optimize treatment outcomes for spinal muscle atrophy (SMA)?

How is spinal muscle atrophy (SMA) treated?

What is the role of genetic therapy in the treatment of spinal muscle atrophy (SMA)?

How are the pulmonary manifestations of spinal muscle atrophy (SMA) treated?

What is the role of physical therapy in the treatment of spinal muscle atrophy (SMA) treated?

What is scoliosis treated in spinal muscle atrophy (SMA) treated?

How are pulmonary infections prevented in spinal muscle atrophy (SMA)?

What are the cognitive and educational needs of children with spinal muscle atrophy (SMA)?

What is the role of posterior spinal fusion and segmental instrumentation in the treatment of spinal muscle atrophy (SMA)?

How are contractures treated in spinal muscle atrophy (SMA)?

What is the role of pelvic stabilization procedures in the treatment of spinal muscle atrophy (SMA)?

How are fractures treated in spinal muscle atrophy (SMA)?

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

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

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

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

What is included in long-term monitoring of spinal muscle atrophy (SMA)?

Medications

Which medications are FDA-approved for the treatment for spinal muscle atrophy (SMA)?

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