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Neuromuscular Disorders in Children and Adolescents

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A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Child Neurology".

Deadline for manuscript submissions: closed (10 December 2021) | Viewed by 31063

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Prof. Rudolf Korinthenberg

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Research Ethics Comittee, University of Freiburg, 79106 Freiburg, Germany
Interests: epilepsy in children; neuromuscular disorders; Duchenne muscular dystrophy; spinal muscular atrophy

Special Issue Information

Dear Colleagues,

The term “neuromuscular disorders” (NMD) includes diseases that take their origin or manifest at the anatomical and functional “neuromuscular unit”, comprised of the spinal alpha-motoneuron, the peripheral nerve and its axon collaterals, the neuromuscular synapses and the associated muscle fibers. With few exceptions, neuromuscular disorders in children are rare diseases. The overall prevalence up to the age of 15 has been estimated at 7–80/100,000. The group contains many hundreds of disease entities. Of these, some 80% are inherited. X-linked Duchenne muscular dystrophy (DMD), autosomal-recessive spinal muscular atrophy (SMA) and autosomal dominant Charcot–Marie–Tooth neuropathy type 1A are the most frequent ones (incidence between 1:2,500–1:10,000); all others are much rarer and, in part, have been described in only a few families. In children, only 20% of NMDs are acquired (inflammatory, toxic, metabolic) and accessible to a causative treatment.

During the last three decades, significant scientific and therapeutic progress has been achieved, especially in hereditary NMDs. In 1985, DMD was the first genetic disease whose genetic code could be deciphered. Since that time, continuously new genetic entities of neuromuscular diseases were defined, not infrequently with overlapping genotypes or phenotypes. As a consequence, the classification of these diseases changed from a clinical-descriptive and formal-genetic to a molecular genetic and pathophysiological one. This resulted in intensified research in the pathophysiology and therapy of these diseases, in the last years resulting in first effective gene-modifying treatments in DMD and SMA, and recently, gene replacement therapy in the most severe form of SMA. Despite this significant progress in therapeutic research, the way to cure or significantly improve life for most children and adolescents with neuromuscular disorders is still unknown and a long way off. Nevertheless, great progress has also been made in symptomatic and rehabilitative management, allowing one to significantly improve functioning and quality of life of the affected individuals and their families. In this respect, the international consensus standards have been formulated for the more prevalent disease groups, and these continuously have to be confirmed and improved by results of well-planned, controlled clinical trials.

The Special Issue on NMDs of this journal is open to all kinds of high-quality research in the field, including articles on genetics, pathophysiology, experimental therapeutic research, clinical trials, and clinical research in symptomatic, rehabilitative and psycho-social management. The whole spectrum, from reviews over original research, to important case reports, will be welcome.

Prof. Rudolf Korinthenberg
Guest Editor

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Keywords

neuromuscular disorders
Duchenne muscular dystrophy
spinal muscular atrophy
Charcot–Marie–Tooth disease
congenital myopathies
metabolic myopathies
myasthenic syndromes
limb-girdle muscular dystrophy
diagnosis
genetics
pathophysiology
therapy
management
rehabilitation

Published Papers (12 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 171 KiB

Open AccessEditorial

Special Issue “Neuromuscular Disorders in Children and Adolescents”

by Rudolf Korinthenberg

Children 2022, 9(4), 558; https://doi.org/10.3390/children9040558 - 14 Apr 2022

Viewed by 1340

Abstract

Our call for contributions in early 2021 resulted in 10 peer-reviewed publications by the end of the year covering a wide range of topics in the field of neuromuscular diseases in children and adolescents [...] Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

Research

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12 pages, 2371 KiB

Open AccessArticle

Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

by Katherine D. Mathews, Kristin M. Conway, Amber M. Gedlinske, Nicholas Johnson, Natalie Street, Russell J. Butterfield, Man Hung, Emma Ciafaloni and Paul A. Romitti

Children 2021, 8(10), 835; https://doi.org/10.3390/children8100835 - 23 Sep 2021

Cited by 3 | Viewed by 1669

Abstract

Background: Therapeutic trials are critical to improving outcomes for individuals diagnosed with Duchenne muscular dystrophy (DMD). Understanding predictors of clinical trial participation could maximize enrollment. Methods: Data from six sites (Colorado, Iowa, Piedmont region North Carolina, South Carolina, Utah, and western New York) of the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) were analyzed. Clinical trial participation and individual-level clinical and sociodemographic characteristics were obtained from medical records for the 2000–2015 calendar years. County-level characteristics were determined from linkage of the most recent county of residence identified from medical records and publicly available federal datasets. Fisher’s exact and Wilcoxon two-sample tests were used with statistical significance set at one-sided p-value (<0.05) based on the hypothesis that nonparticipants had fewer resources. Results: Clinical trial participation was identified among 17.9% (MD STARnet site: 3.7–27.3%) of 358 individuals with DMD. Corticosteroids, tadalafil, and ataluren (PTC124) were the most common trial medications recorded. Fewer non-Hispanic blacks or Hispanics than non-Hispanic whites participated in clinical trials. Trial participants tended to reside in counties with lower percentages of non-Hispanic blacks. Conclusion: Understanding characteristics associated with clinical trial participation is critical for identifying participation barriers and generalizability of trial results. MD STARnet is uniquely able to track clinical trial participation through surveillance and describe patterns of participation. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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12 pages, 3065 KiB

Open AccessArticle

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy

by Adela Della Marina, Marc Pawlitzki, Tobias Ruck, Andreas van Baalen, Nadine Vogt, Bernd Schweiger, Swantje Hertel, Heike Kölbel, Heinz Wiendl, Corinna Preuße, Andreas Roos and Ulrike Schara-Schmidt

Children 2021, 8(9), 721; https://doi.org/10.3390/children8090721 - 24 Aug 2021

Cited by 7 | Viewed by 2936

Abstract

(1) Background: Immune–mediated necrotizing myopathy (IMNM) is a rare form of inflammatory muscle disease which is even more rare in pediatric patients. To increase the knowledge of juvenile IMNM, we here present the clinical findings on long-term follow-up, myopathological changes, and therapeutic strategies in two juvenile patients. (2) Methods: Investigations included phenotyping, determination of antibody status, microscopy on muscle biopsies, MRI, and response to therapeutic interventions. (3) Results: Anti-signal recognition particle (anti-SRP54) and anti- 3-hydroxy-3-methylglutarly coenzyme A reductase (anti-HMGCR) antibodies (Ab) were detected in the patients. Limb girdle presentation, very high CK-levels, and a lack of skin rash at disease-manifestation and an absence of prominent inflammatory signs accompanied by an abnormal distribution of α-dystroglycan in muscle biopsies initially hinted toward a genetically caused muscle dystrophy. Further immunostaining studies revealed an increase of proteins involved in chaperone-assisted autophagy (CASA), a finding already described in adult IMNM-patients. Asymmetrical muscular weakness was present in the anti-SRP54 positive Ab patient. After initial stabilization under therapy with intravenous immunoglobulins and methotrexate, both patients experienced a worsening of their symptoms and despite further therapy escalation, developed a permanent reduction of their muscle strength and muscular atrophy. (4) Conclusions: Diagnosis of juvenile IMNM might be complicated by asymmetric muscle weakness, lack of cutaneous features, absence of prominent inflammatory changes in the biopsy, and altered α-dystroglycan. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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14 pages, 1016 KiB

Open AccessArticle

Sagittal Plane Deformities in Children with SMA2 following Posterior Spinal Instrumentation

by Matthew A. Halanski, Rewais Hanna, James Bernatz, Max Twedt, Sarah Sund, Karen Patterson, Kenneth J. Noonan, Meredith Schultz, Mary K. Schroth, Mark Sharafinski and Brian P. Hasley

Children 2021, 8(8), 703; https://doi.org/10.3390/children8080703 - 16 Aug 2021

Cited by 2 | Viewed by 1843

Abstract

This is a retrospective radiographic review to assess post-operative sagittal plane deformities in patients with Spinal Muscular Atrophy type 2 that had been treated with posterior spinal instrumentation. Thirty-two patients with a history of either spinal fusion (N = 20) or growing rods (N = 12) were identified with an average of 7.6 (2.1–16.6) years post-operative follow-up. Forty percent (13/32) of the patients were identified as having obvious “tucked chin” (N = 4), “tipped trunk” (N = 9), or both (N = 3). Sacral incidence was the only parameter that was statistically significant change between pre-operative or immediate post-operative measurements (66.9° vs. 55.2° p = 0.03). However, at final follow-up, the post-operative thoracic kyphosis had decreased over time in those that developed a subsequent sagittal deformity (24.2°) whereas it increased in those that did not (44.7°, p = 0.008). This decrease in thoracic kyphosis throughout the instrumented levels, resulted in a greater lordotic imbalance (30.4° vs. 5.6°, p = 0.001) throughout the instrumented levels in the group that developed the subsequent cervical or pelvic sagittal deformities. In conclusion, sagittal plane deformities commonly develop outside the instrumented levels in children with SMA type 2 following posterior spinal instrumentation and may be the result of lordotic imbalance that occurs through continued anterior growth following posterior instrumentation. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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9 pages, 1897 KiB

Open AccessArticle

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children

by Christina T. Rüsch, Ursula Knirsch, Daniel M. Weber, Marianne Rohrbach, André Eichenberger, Jürg Lütschg, Kirsten Weber, Philip J. Broser and Georg M. Stettner

Children 2021, 8(8), 624; https://doi.org/10.3390/children8080624 - 23 Jul 2021

Cited by 5 | Viewed by 1856

Abstract

(1) Background: Carpal tunnel syndrome (CTS), a compressive mononeuropathy of the median nerve at the wrist, is rare in childhood and occurs most frequently due to secondary causes. (2) Methods: Medical history, electrodiagnostic findings, and imaging data of patients with CTS from two pediatric neuromuscular centers were analyzed retrospectively. The etiology of CTS was investigated and compared with the literature. (3) Results: We report on a cohort of 38 CTS patients (n = 22 females, n = 29 bilateral, mean age at diagnosis 9.8 years). Electrodiagnostic studies of all patients revealed slowing of the antidromic sensory or orthodromic mixed nerve conduction velocities across the carpal tunnel or lack of the sensory nerve action potential and/or prolonged distal motor latencies. Median nerve ultrasound was diagnostic for CTS and confirmed tumorous and vascular malformations. Etiology was secondary in most patients (n = 29; 76%), and mucopolysaccharidosis was the most frequent underlying condition (n = 14; 37%). Idiopathic CTS was rare in this pediatric cohort (n = 9; 24%). (4) Conclusion: Since CTS in childhood is predominantly caused by an underlying disorder, a thorough evaluation and search for a causative condition is recommended in this age group. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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10 pages, 662 KiB

Open AccessArticle

Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy

by Meaghann S. Weaver, Alice Yuroff, Sarah Sund, Scott Hetzel and Matthew A. Halanski

Children 2021, 8(7), 604; https://doi.org/10.3390/children8070604 - 17 Jul 2021

Cited by 6 | Viewed by 2523

Abstract

The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use. Communication; family relationships; physical, emotional, social, and cognitive functioning; and daily activities were measured using Pediatric Quality of Life modules (Family Impact Modules and both Patient and Proxy Neuromuscular-Specific Reports) pre- and post-nusinersen exposure. A total of 35 patients with SMA (15 Type 1, 14 Type 2, and 6 Type 3) were grouped according to nusinersen exposure. When analyzed as a whole cross-sectional clinical population, no significant differences were found between the initial and final surveys. Nusinersen therapy was associated with improved communication and emotional functioning in subsets of the population, particularly for patients on maintenance therapy for longer duration. Several unexpected potentially negative findings including increases in family resources and trends towards increases in worry warrant further consideration. Further research is warranted to explore the impact of novel pharmaceuticals on quality of life for children with SMA longitudinally to optimize clinical and psychosocial outcomes. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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11 pages, 2436 KiB

Open AccessArticle

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population

by Kyung-Sun Park

Children 2021, 8(7), 601; https://doi.org/10.3390/children8070601 - 16 Jul 2021

Cited by 3 | Viewed by 2617

Abstract

In this study, two different approaches were applied in the analysis of the GAA gene. One was analyzed based on patients with Pompe disease, and the other was analyzed based on GAA genomic data from unaffected carriers in a general population genetic database. For this, GAA variants in Korean and Japanese patients reported in previous studies and in patients reported in the Pompe disease GAA variant database were analyzed as a model. In addition, GAA variants in the Korean Reference Genome Database (KRGDB), the Japanese Multi Omics Reference Panel (jMorp), and the Genome Aggregation Database (gnomAD) were analyzed. Overall, approximately 50% of the pathogenic or likely pathogenic variants (PLPVs) found in unaffected carriers were also found in real patients with Pompe disease (Koreans, 57.1%; Japanese, 46.2%). In addition, there was a moderate positive correlation (Spearman’s correlation coefficient of 0.45–0.69) between the proportion of certain PLPVs in patients and the minor allele frequency of their variants in a general population database. Based on the analysis of general population databases, the total carrier frequency for Pompe disease in Koreans and Japanese was estimated to be 1.7% and 0.7%, respectively, and the predicted genetic prevalence was 1:13,657 and 1:78,013, respectively. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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Review

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13 pages, 794 KiB

Open AccessReview

Muscle Ultrasonographic Elastography in Children: Review of the Current Knowledge and Application

by Agnieszka Cebula, Maciej Cebula and Ilona Kopyta

Children 2021, 8(11), 1042; https://doi.org/10.3390/children8111042 - 12 Nov 2021

Cited by 5 | Viewed by 2185

Abstract

Ultrasonographic elastography is a relatively new imaging modality for the qualitative and quantitative assessments of tissue elasticity. While it has steadily gained use in adult clinical practice, including for liver diseases, breast cancer, thyroid pathologies, and muscle and tendon diseases, data on its paediatric application is still limited. Moreover, diagnosis of muscular diseases in children remains challenging. The gold standard methods, namely biopsy, electroneurography, and electromyography, are often limited owing to their invasive characteristics, possible contraindications, complications, and need for good cooperation, that is, a patient’s ability to perform certain tasks during the examination while withstanding discomfort, which is a significant problem especially in younger or uncooperative children. Genetic testing, which has broad diagnostic possibilities, often entails a high cost, which limits its application. Thus, a non-invasive, objective, repeatable, and accessible tool is needed to aid in both the diagnosis and monitoring of muscle pathologies. We believe that elastography may prove to be such a method. The aim of this review was to present the current knowledge on the use of muscle elastography in the paediatric population and information on the limitations of elastography in relation to examination protocols and factors for consideration in everyday practice and future studies. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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19 pages, 1235 KiB

Open AccessReview

Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines

by Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko, Georg M. Stettner, Markus Blankenburg, Joachim Weis, Benedikt Schoser, Wolfgang Müller-Felber, Nina Lochbuehler, Gabriele Hahn and Sabine Rudnik-Schöneborn

Children 2021, 8(8), 687; https://doi.org/10.3390/children8080687 - 09 Aug 2021

Cited by 6 | Viewed by 5757

Abstract

Disorders of the peripheral nerves can be caused by a broad spectrum of acquired or hereditary aetiologies. The objective of these practice guidelines is to provide the reader with information about the differential diagnostic workup for a target-oriented diagnosis. Following an initiative of the German-speaking Society of Neuropaediatrics, delegates from 10 German societies dedicated to neuroscience worked in close co-operation to write this guideline. Applying the Delphi methodology, the authors carried out a formal consensus process to develop practice recommendations. These covered the important diagnostic steps both for acquired neuropathies (traumatic, infectious, inflammatory) and the spectrum of hereditary Charcot–Marie–Tooth (CMT) diseases. Some of our most important recommendations are that: (i) The indication for further diagnostics must be based on the patient’s history and clinical findings; (ii) Potential toxic neuropathy also has to be considered; (iii) For focal and regional neuropathies of unknown aetiology, nerve sonography and MRI should be performed; and (iv) For demyelinated hereditary neuropathy, genetic diagnostics should first address PMP22 gene deletion: once that has been excluded, massive parallel sequencing including an analysis of relevant CMT-genes should be performed. This article contains a short version of the guidelines. The full-length text (in German) can be found at the Website of the “Arbeitsgemeinschaft der Wissenschftlichen Medizinischen Fachgesellschaften e.V. (AWMF), Germany. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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Other

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6 pages, 545 KiB

Open AccessCase Report

Neuralgic Amyotrophy with Concomitant Hereditary Neuropathy with Liability to Pressure Palsy as a Cause of Dropped Shoulder in a Child after Human Papillomavirus Vaccination: A Case Report

by Hye-Chan Ahn, Do-Hoon Kim, Chul-Hyun Cho, Jun-Chul Byun and Jang-Hyuk Cho

Children 2022, 9(4), 528; https://doi.org/10.3390/children9040528 - 07 Apr 2022

Cited by 1 | Viewed by 1649

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) makes nerves increasingly susceptible to mechanical pressure at entrapment sites. Neuralgic amyotrophy (NA) can cause sudden regional weakness following events to which the patient is immunologically predisposed, such as vaccination. However, NA related to human papilloma virus (HPV) vaccination is seldom reported. We describe the case of a child with NA as the cause of a dropped shoulder following the administration of the HPV vaccine. Underlying asymptomatic HNPP was confirmed in this patient based on the electrodiagnostic findings and genetic analysis. We speculate that HPV vaccination elicited an immune-mediated inflammatory response, resulting in NA. Our patient with pre-existing HNPP might be vulnerable to the occurrence of an immune-mediated NA, which caused the dropped shoulder. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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7 pages, 1009 KiB

Open AccessCase Report

Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

by Minsu Gu and Hyun-Ho Kong

Children 2021, 8(11), 1039; https://doi.org/10.3390/children8111039 - 11 Nov 2021

Cited by 2 | Viewed by 2036

Abstract

Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity. The present study aimed to investigate the ability of nusinersen to improve fine manual dexterity in patients with SMA type 2. A total of five patients with SMA type 2 were included. The Hammersmith Functional Motor Scale (expanded version) (HFMSE) and Purdue Pegboard (PP) tests were used to evaluate gross motor function and fine manual dexterity, respectively, until 18 months after nusinersen administration. HFMSE scores improved by 3–10 points (+13–53%) in all patients following nusinersen administration. PP scores also improved in all patients, from 4 to 9 points (+80–225%) in the preferred hand and from 3 to 7 points (+60–500%) in the non-preferred hand. These results suggest that nusinersen treatment improved both gross motor function and fine manual dexterity in children with SMA type 2. Addition of the PP test may aid in evaluating the fine manual dexterity essential for activities of daily living in these patients. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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11 pages, 964 KiB

Open AccessCase Report

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

by Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller and Atchayaram Nalini

Children 2021, 8(10), 909; https://doi.org/10.3390/children8100909 - 13 Oct 2021

Cited by 6 | Viewed by 1972

Abstract

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in ECEL1. We describe two consanguineous families (three patients) with novel ECEL1 gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented with birth asphyxia, motor developmental delay, multiple joint contractures, pes planus, kyphoscoliosis, undescended testis, hypophonic speech with a nasal twang, asymmetric ptosis, facial weakness, absent abductor pollicis brevis, bifacial, and distal lower limb weakness. Muscle MRI revealed asymmetric fatty infiltration of tensor fascia lata, hamstring, lateral compartment of the leg, and gastrocnemius. In addition, 17-year-old monozygotic twins (patients 2 and 3) presented with motor development delay, white hairlock, hypertelorism, tented upper lip, bulbous nose, tongue furrowing, small low set ears, multiple contractures, pes cavus, prominent hyperextensibility at the knee, hypotonia of lower limbs, wasting and weakness of all limbs (distal > proximal), areflexia, and high steppage gait. One had perinatal insult, seizures, mild intellectual disability, unconjugated eye movements, and primary optic atrophy. In the twins, MRI revealed extensive fatty infiltration of the gluteus maximus, quadriceps, hamstrings, and anterior and posterior compartment of the leg. Electrophysiology showed prominent motor axonopathy. NGS revealed rare homozygous missense variants c.602T > C (p.Met201Thr) in patient 1 and c.83C > T (p.Ala28Val) in patients 2 and 3, both localized in exon 2 of ECEL1 gene. Our three cases expand the clinical, imaging, and molecular spectrum of the ECEL1-mutation-related DA5D. Full article

(This article belongs to the Special Issue Neuromuscular Disorders in Children and Adolescents)

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