Trusted Resources: Education
Scientific literature and patient education texts
Spinal Muscular Atrophy With Predominant Lower Extremity (SMA-LED) With no Signs Other Than Pure Motor Symptoms at the Intersection of Multiple Overlap Syndrome
source: Brain & Development
year: 2021
authors: Tekin HG, Edem P, Özyılmaz B
summary/abstract:Background: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.
Methods: Pathogenic heterozygous c.1678G > A (p.Val560Met) mutation was detected in the DYNC1H1 gene by next-generation targeted gene analysis in the patient who had no phenotypic findings except delayed motor milestones, lumbar lordosis, and lower extremity muscle weakness. The patient’s creatinine phosphokinase enzyme level and brain magnetic resonance imaging (MRI) were normal. Electromyography (EMG) had pure motor findings.
Conclusion: It should be kept in mind that DYNC1H1 mutation, which we are accustomed to seeing with accompanying findings such as orthopedic and ocular dysmorphic findings, sensorineural EMG findings, and intellectual disability, can also observe with pure motor findings such as muscular dystrophy examination findings.
organization: İzmir Bakircay University Cigli Training and Research Hospital, Turkey; Tepecik Training and Research Hospital, TurkeyDOI: 10.1016/j.braindev.2021.12.001
read more
Related Content
-
Neurogenic Arthrogryposis and the Power of PhenotypingIn this article we review the commonest ...
-
An Infant With Congenital Respiratory Insufficiency and Diaphragmatic Paralysis: A Novel BICD2 Phenotype?Monoallelic pathogenic variants in BICD2...
-
Spinal Muscular Atrophy With Respiratory Distress <br /> Type 1: A Novel Variant of IGHMBP2 GeneSpinal muscular atrophy (SMA) with respi...
-
Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship Between Strength and Performance of Forward Lung...Introduction: Spinal and bulbar muscular...
-
Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulis...Spinal muscular atrophy with respiratory...
-
Patient and Caregiver Treatment Preferences in Type 2 and Non-Ambulatory Type 3 Spinal Muscular Atrophy: A Discrete ...Background: Spinal muscular atrophy (SMA...
-
Safety and Efficacy of Once-Daily Risdiplam in Type 2 and Non-Ambulant Type 3 Spinal Muscular Atrophy (SUNFISH Part ...Background: Risdiplam is an oral small m...