Related Experiment Video
Updated: Jun 30, 2025
A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
Published on: November 3, 2016
Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes
Gurnoor Lail1, Victoria M Siu1, Andrew Leung1
1From the Department of Paediatrics, Division of Medical Genetics (G.L., V.M.S.), and Department of Medical Imaging (A.L.), Western University, London, Ontario, Canada.
Insights
This case study highlights a rare genetic neuromuscular condition in an infant presenting with hypotonia and motor delays. Early recognition is crucial for effective management of infantile-onset muscle weakness.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Infantile-onset hypotonia and muscle weakness present a broad differential diagnosis.
- Numerous genetic disorders, including muscular dystrophies, myopathies, and metabolic errors, can cause these symptoms.
Abstract:
We describe the case of a 19-month-old girl presenting with gross motor delays, hypotonia, diminished deep tendon reflexes, hyperCKaemia, extensive white matter changes on MRI brain, and electromyography studies consistent with myopathy. The differential diagnosis for infantile-onset hypotonia and muscle weakness is broad. It includes numerous subtypes of genetic disorders, including congenital muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, spinal muscular atrophy, single-gene genetic syndromes, and inborn errors of metabolism. We outline our clinical approach leading to the diagnosis of a distinctive genetic neuromuscular condition essential for neurologists and geneticists working with patients of all ages to recognize.
More Related Videos
06:04Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
Published on: August 16, 2024
05:52Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis
Published on: November 21, 2013
Related Concept Videos
01:15Myasthenia Gravis: Diagnostic Tests
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
01:28Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...