Spinal Muscular atrophy Overview

Spinal Muscular Atrophy Microchapters
Home
Patient Info
Overview
Epidemiology and Demographics
Risk Factors
Screening
Other forms
Molecular Biology
Genetics
Types
Diagnosis
Diagnosis
Full Differential Diagnosis
Symptom
Physical Examination
Electrolyte & Biomarker Studies
Electrocardiogram
Chest X Ray
MRI and CT
Echocardiography or Ultrasound
Other Imaging Findings
Pathology
Other Diagnostic Studies
Treatment
Outcome measures
Therapeutics development
Indications For Surgery
Research
Pre-Operative Assessment
Post-Operative Assessment
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Spinal Muscular atrophy Overview Resources
Most recent articles on Spinal Muscular atrophy Overview
Most cited articles on Spinal Muscular atrophy Overview
Review articles on Spinal Muscular atrophy Overview
Review articles on Spinal Muscular atrophy Overview
CME Programs on Spinal Muscular atrophy Overview
Powerpoint slides on Spinal Muscular atrophy Overview
Images of Spinal Muscular atrophy Overview
Ongoing Trials on Spinal Muscular atrophy Overview at Clinical Trials.gov
US National Guidelines Clearinghouse on Spinal Muscular atrophy Overview
NICE Guidance on Spinal Muscular atrophy Overview
FDA on Spinal Muscular atrophy Overview
CDC on Spinal Muscular atrophy Overview
Spinal Muscular atrophy Overview in the news
Blogs on Spinal Muscular atrophy Overview
Directions to Hospitals Treating Spinal Muscular atrophy Overview
Risk calculators and risk factors for Spinal Muscular atrophy Overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Spinal muscular atrophy is the commonest genetic cause of infant mortality. It is an autosomal recessive neuromuscular disorder caused by loss of survival motor neuron gene (SMN1). It is primarily a pediatrics disorder resulting from degeneration of anterior horn cells (lower motor neurons) in spinal cord and brain stem nuclei. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raises hope for a cure in future.