-
1.
Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Gupta, A, Iyadurai, S, Roggenbuck, J, LoRusso, S
Neuromuscular disorders : NMD. 2021;(7):656-659
Abstract
Andersen-Tawil syndrome is a rare, autosomal dominant, multisystem disorder for which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. The syndrome is characterized by the clinical triad of episodic paralysis, cardiac conduction abnormalities, and dysmorphic facial and skeletal features. Treatment of Andersen-Tawil syndrome is primarily focused on management of cardiac arrhythmias and preventive management of paralytic attacks. Dichlorphenamide is approved by the US Food and Drug Administration for use in primary periodic paralysis based on several randomized, controlled trials but has not been studied in patients with Andersen-Tawil syndrome. Here, we report a case of the syndrome caused by a de novo pathogenic variant in the KCNJ2 gene (c.95_98del). The paralytic attack rate for this patient was better controlled with dichlorphenamide compared with acetazolamide, further supporting the use of dichlorphenamide in patients with Andersen-Tawil syndrome.
-
2.
A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1.
Xiao, T, Yang, H, Gan, S, Wu, L
Medicine. 2021;(47):e27907
-
-
Free full text
-
Abstract
RATIONALE Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in the clinic. This onset is relatively early, the symptoms are serious, and it is likely to be accompanied by retinal vascular disease, sensorineural deafness, epilepsy and other extramuscular multisystem diseases. We report the clinical characteristics of 2 patients with early-onset facial and shoulder brachial muscular dystrophy to improve clinicians' understanding of this particular condition. PATIENT CONCERNS We report 2 pediatric patients with FSHD type 1. Patient 1 is an 11-year-old boy with reduced facial expression for 9 years and proximal muscle weakness for 6 years. Patient 2 is a 4-year and 6-month-old girl with developmental delay for 3 years and facial weakness for 1 year. DIAGNOSIS According to the clinical manifestations and molecular genetic testing (such as Southern blot analysis), the patients were diagnosed with early-onset FSHD1. INTERVENTIONS The patients received cocktail therapy (vitamin B1 tablets, vitamin B2 tablets, vitamin B6 tablets, vitamin C tablets, vitamin E tablets, idebenone tablets, etc.) to improve their muscle metabolism. OUTCOMES Both patients' condition did not improve after being given cocktail treatment. According to a recent follow-up, the symptoms of facial weakness and proximal muscle weakness were aggravated. LESSONS Early-onset FSHD presents early and has frequent systemic features, and it is a severe subtype of FSHD. Early identification and genetic diagnosis should be performed to improve patient prognosis.
-
3.
Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg, BC, LoRusso, S, Arnold, WD, Barohn, RJ, Cannon, SC, Fontaine, B, Griggs, RC, Hanna, MG, Matthews, E, Meola, G, et al
Muscle & nerve. 2020;(4):430-444
-
-
Free full text
-
Abstract
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.
-
4.
[Intensive Care Unit-Acquired Weakness].
Siao, SF, Yen, YH, Yu, YF, Zong, SL, Chen, CC
Hu li za zhi The journal of nursing. 2020;(3):6-13
Abstract
Intensive care unit (ICU)-acquired weakness is a common neuromuscular complication of critical illness that is considered to be associated with prolonged duration on mechanical ventilation and systemic inflammatory response syndrome. In addition, nutrition and metabolic alternations, which are commonly seen in patients in the ICU, may further accelerate muscle wasting and increase the incidence of ICU-acquired weakness. The clinical features of ICU-acquired weakness include acute generalized muscle weakness that develops after the onset of critical illness. Diaphragmatic dysfunction, post-extubation dysphagia, and functional decline also are common in patients with ICU-acquired weakness. As the recovery of these physical functions is lengthy and difficult, a multidisciplinary team management is recommended. This mini-review was conducted to provide a scientific overview for ICU-acquired weakness, including its definition, etiology, diagnosis/screening, impacts, and potential intervention strategies. We hope that increasing the understanding of frontline staff will promote the timely planning and implementation of related screenings and interventions to enhance the functional recovery of patients receiving care in the ICU.
-
5.
Strength deficits in lower limb prosthesis users: A scoping review.
Hewson, A, Dent, S, Sawers, A
Prosthetics and orthotics international. 2020;(5):323-340
Abstract
BACKGROUND Strength deficits may play a central role in the severity of balance, mobility, and endurance impairments in lower limb prosthesis users. A body of literature detailing the scope and specifics of muscle weakness in lower limb prosthesis users is emerging, but has yet to be summarized. A synopsis of strength deficits, and their impact on functional abilities in lower limb prosthesis users, may inform rehabilitation and research needs. OBJECTIVES Synthesize reported strength deficits in lower limb prosthesis users, and discuss possible causes, consequences, and solutions. STUDY DESIGN Scoping review. METHODS A search of biomedical databases was performed, and inclusion/exclusion criteria were applied to identify publications relevant to the purpose of the review. RESULTS In all, 377 publications were identified, of which 12 met the inclusion/exclusion criteria. When compared with the controls and the intact limb, the primary strength outcome, peak torque, was lower in transtibial residual limb knee flexors and extensors, as well as transfemoral residual limb hip muscles. CONCLUSIONS The reviewed studies provide evidence of strength deficits in lower limb prosthesis users. These deficits appear to be consequential, as they may contribute to balance, mobility, and endurance impairments. Additional research exploring alternative strength metrics, clinical tests, and causal links to functional impairments is required. CLINICAL RELEVANCE Evidence of muscle weakness among lower limb prosthesis users, and its influence on balance, mobility, and endurance, suggests that greater clinical attention and scientific inquiry into physical conditioning of lower limb prosthesis users is merited and required.
-
6.
Weak and Dizzy-Another Explanation to Explore: Poor Nutrition in the Older Adult.
Somes, J
Journal of emergency nursing. 2020;(4):541-545
-
7.
Disorders of Human Coenzyme Q10 Metabolism: An Overview.
Hargreaves, I, Heaton, RA, Mantle, D
International journal of molecular sciences. 2020;(18)
Abstract
Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and extramitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation, CoQ10 serves as a lipid soluble antioxidant, plays an important role in fatty acid, pyrimidine and lysosomal metabolism, as well as directly mediating the expression of a number of genes, including those involved in inflammation. In view of the central role of CoQ10 in cellular metabolism, it is unsurprising that a CoQ10 deficiency is linked to the pathogenesis of a range of disorders. CoQ10 deficiency is broadly classified into primary or secondary deficiencies. Primary deficiencies result from genetic defects in the multi-step biochemical pathway of CoQ10 synthesis, whereas secondary deficiencies can occur as result of other diseases or certain pharmacotherapies. In this article we have reviewed the clinical consequences of primary and secondary CoQ10 deficiencies, as well as providing some examples of the successful use of CoQ10 supplementation in the treatment of disease.
-
8.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
Böhm, J, Malfatti, E, Oates, E, Jones, K, Brochier, G, Boland, A, Deleuze, JF, Romero, NB, Laporte, J
Journal of medical genetics. 2019;(9):617-621
Abstract
BACKGROUND The activating signal cointegrator 1 (ASC-1) complex acts as a transcriptional coactivator for a variety of transcription factors and consists of four subunits: ASCC1, ASCC2, ASCC3 and TRIP4. A single homozygous mutation in ASCC1 has recently been reported in two families with a severe muscle and bone disorder. OBJECTIVE We aim to contribute to a better understanding of the ASCC1-related disorder. METHODS Here, we provide a clinical, histological and genetic description of three additional ASCC1 families. RESULTS All patients presented with severe prenatal-onset muscle weakness, neonatal hypotonia and arthrogryposis, and congenital bone fractures. The muscle biopsies from the affected infants revealed intense oxidative rims beneath the sarcolemma and scattered remnants of sarcomeres with enlarged Z-bands, potentially representing a histopathological hallmark of the disorder. Sequencing identified recessive nonsense or frameshift mutations in ASCC1, including two novel mutations. CONCLUSION Overall, this work expands the ASCC1 mutation spectrum, sheds light on the muscle histology of the disorder and emphasises the physiological importance of the ASC-1 complex in fetal muscle and bone development.
-
9.
Forging Ahead.
Anklesaria, Z, Hunt, D, Shah, M, Sharpe, B, Monash, B
Journal of hospital medicine. 2017;(3):188-192
Abstract
The approach to clinical conundrums by an expert clinician is revealed through the presentation of an actual patient's case in an approach typical of a morning report. Similarly to patient care, sequential pieces of information are provided to the clinician, who is unfamiliar with the case. The focus is on the thought processes of both the clinical team caring for the patient and the discussant. This icon represents the patient's case. Each paragraph that follows represents the discussant's thoughts.
-
10.
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
Koppolu, AA, Madej-Pilarczyk, A, Rydzanicz, M, Kosińska, J, Gasperowicz, P, Dorszewska, J, Kozubski, W, Steinborn, B, Kochański, AM, Płoski, R
Folia neuropathologica. 2017;(3):214-220
Abstract
Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a novel de novo c.1056+3A>C substitution in intron 14 of the COL6A1 gene encoding alpha-chains of collagen VI in a 13-year-old girl suffering from collagen VI (ColVI) myopathy. Analysis performed on cDNA generated from the RNA obtained from the patient's blood cells showed that the reported variant leads to the entire exon 14 skipping and probably results in an in-frame deletion of 18 amino acids of the COL6A1 protein. Clinical presentation, abnormal secretion of the collagen demonstrated in muscle biopsy and the COL6A1 c.1056+3A>C mutation justify classification of the presented case as ColVI myopathy with moderate-progressive course. Analysis of the literature indicates that the donor splice site of COL6A1 intron 14, associated with the phenotype of Bethlem myopathy or intermediate form, is a hot spot for ColVI myopathies.