Trusted Resources: Education
Scientific literature and patient education texts
Neurogenic Arthrogryposis and the Power of Phenotyping
source: Neuromuscular Disorders: NMD
year: 2021
authors: Rossor AM, Reilly MM
summary/abstract:In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of this disorder and how this has facilitated the identification of the genetic cause of SMALED2. We also review the similarities and differences between the human SMALED phenotype and mouse models and how this has informed our understanding of the potential mechanisms governing motor neuron loss in these disorders.
organization: UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, UKDOI: 10.1016/j.nmd.2021.07.399
read more
Related Content
-
An Infant With Congenital Respiratory Insufficiency and Diaphragmatic Paralysis: A Novel BICD2 Phenotype?Monoallelic pathogenic variants in BICD2...
-
Spinal Muscular Atrophy With Predominant Lower Extremity (SMA-LED) With no Signs Other Than Pure Motor Symptoms at t...Background: Mutations in the cytoplasmic...
-
Spinal Muscular Atrophy With Respiratory Distress <br /> Type 1: A Novel Variant of IGHMBP2 GeneSpinal muscular atrophy (SMA) with respi...
-
Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulis...Spinal muscular atrophy with respiratory...
-
Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship Between Strength and Performance of Forward Lung...Introduction: Spinal and bulbar muscular...
-
Patient of the Month: GiannaAfter noticing that her daughter was una...
-
SMA: Considerations for Newborn Screening and Managementhttps://www.youtube.com/watch?v=FkshzHlc...