Case Report
Volume 12 Issue 12 - 2020
Lid Lag Phenomenon Revealing Myotonia Congenita: Case Report
Musa Juna1*, Compres L2, Rosario M3, Hyseni F4, Rahman M5, Rakovica L6, Saliaj K7, Guy A8, Kola I9 and Blanco R10
1Department of Surgery Physiology and Biomedical Engineering Mayo Clinic, Rochester, Minnesota, USA
2Neurology Department Fellows, University of Cincinnati Medical Center, USA
3Neurology Department, Clinica Bonilla, Santiago Dominican Republic
4Department of Urology, NYU Langone Health, New York, USA
5Department of Neurosurgery, Mayo Clinic, Rochester, MN, USA
6University of Prishtina, Faculty of Medicine, Prishtina, Kosovo
7University of Medicine, Faculty of Medicine, Tirana, Albania
8Clinical Assistant Professor, Department of Physical Medicine and Rehabilitation, New York University School of Medicine, NYU Medical Center, New York, USA
9Department of Burns and Plastic Surgery, University Hospital Center “Mother Teresa”, Tirana, Albania
10Centro de Diagnóstico Por Imágenes Clínico Integral (CEDICLIN), Santiago, Dominican Republic
*Corresponding Author: Juna M, Department of Surgery Physiology and Biomedical Engineering Mayo Clinic, Rochester, Minnesota, USA.
Received: October 15, 2020; Published: November 26, 2020




Abstract

Myotonic disorders represent rare, genetically heterogeneous neuromuscular diseases, whose clinical hallmark is the presence of myotonia. Myotonic disorders are generally classified as either dystrophic (DM) or non-dystrophic myotonia (NDM). Non-dystrophic myotonias (NDM) are skeletal muscle channelopathies characterized by a disruption of normal sarcolemmal ion conductance that results in abnormal muscle fiber excitability. Depending on the affected ion channels, non-dystrophic myotonias include myotonia congenita (MC), paramyotonia congenita (PMC) and sodium channel myotonia (SCM).

Myotonia congenita (MC) is the most common type of non-dystrophic myotonia, occurring due to mutations in CLCN1, the gene encoding the primary skeletal muscle voltage-gated chloride channel (ClC-1). Diagnosis is suspected in the setting of myotonia, muscular stiffness, the warm-up phenomenon, family history and electromyographic studies suggestive of myotonia congenita and is ultimately established through genetic testing.

In this case report, we present a 9-year-old male patient with complaints of muscular stiffness, difficulty in climbing stairs, with calf and buttock hypertrophy and percussion myotonia in both hands and calves evident in physical examination. A diagnosis Myotonia Congenita was made based on the presence of a positive Lid lag sign, a positive warm up test and the results of electromyography (EMG) studies. It was then confirmed by genetic testing.

Along with showcasing a rare pathology, this case report emphasises the importance of a thorough clinical evaluation and electrophysiological studies as the best initial assessments of myotonia, when considering the differential diagnosis and in guiding appropriate genetic testing.

Keywords: Non-Dystrophic Myotonia; Channelopathies; Myotonia Congenita; Electrophysiology

References

  1. Horga A., et al. “Prevalence study of genetically defined skeletal muscle channelopathies in England”. Neurology 80 (2013): 1472-1475.
  2. Suetterlin K., et al. “Muscle channelopathies: recent advances in genetics, pathophysiology and therapy”. Current Opinion in Neurology 27 (2014): 583-590.
  3. Morales F and Pusch M “An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies”. Frontiers in Neurology 10 (2020): 1404.
  4. Koch MC., et al. “The skeletal muscle chloride channel in dominant and recessive human myotonia”. Science 257 (1992): 797-800.
  5. Pusch M. “Myotonia caused by mutations in the muscle chloride channel gene CLCN1”. Human Mutation 19 (2002): 423-434.
  6. Michael K Hehir and Eric L Logigian. “Electrodiagnosis of Myotonic Disorders, Physical Medicine and Rehabilitation”. Clinics of North America1 (2013): 209-220.
  7. Lossin C and George AL. “Myotonia Congenita”. Advanced Genetics 63 (2008): 25-55.
  8. Burge JA and Hanna MG. “Novel insights into the pathomechanisms of skeletal muscle channelopathies”. Current Neurology and Neuroscience Reports 12 (2012): 62-69.
  9. Plassart-Schiess E., et al. “Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance”. Neurology 50.4 (1998): 1176-1179.
  10. Thomsen J. “Tonische Kra¨mpfe in willku¨rlich beweglichen Muskeln in Folge von ererbter psychischer Disposition (Ataxia muscularis?)”. Arch Psychiatr Nervenkr 6 (1876): 702-718.
  11. Wakeman B., et al. “Extraocular muscle hypertrophy in myotonia congenita”. Journal of AAPOS 12 (2008): 294-296.
  12. Trivedi JR., et al. “Non-dystrophic myotonia: prospective study of objective and patient reported outcomes”. Brain7 (2013): 2189-2200.
  13. Trip J., et al. “Redefining the clinical phenotypes of non-dystrophic myotonic syndromes”. Journal of Neurology, Neurosurgery, and Psychiatry 6 (2009): 647-652.
  14. Colding-Jorgensen E. “Phenotypic variability in myotonia congenita”. Muscle Nerve1 (2005): 19-34.
  15. Hahn C and Salajegheh MK. “Myotonic disorders: A review article”. The Iranian Journal of Neurology 1 (2016): 46-53.
  16. Becker PE. “Zur Genetik der Myotonien”. In “Progressive Muskeldystrophie-Myotonie-Myasthenie” (E. Kuhn, edition.) (1966): 247-255.
  17. Becker PE. “Myotonia Congenita and Syndromes Associated with Myotonia”. Thieme, Stuttgart (1977).
  18. Erich Kuhn S., et al. “The autosomal recessive (Becker) form of myotonia congenita”. Muscle and Nerve2 (1979): 109-117.
  19. Rüdel R., et al. “Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)”. Muscle Nerve 11(1988): 202-211.
  20. Dunø M and Colding-Jørgensen E. “Myotonia Congenita”. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle (2005).
  21. Statland JM., et al. “Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia: A Randomized Controlled Trial”. The Journal of the American Medical Association 13 (2012): 1357-1365.
  22. Savitha MR., et al. “Myotonia congenita-A successful response to carbamazepine”. Indian Journal of Pediatrics 73 (2006): 431-433.
  23. Aichele R Aichele., et al. “Efficacy of phenytoin, procainamide, and tocainide in murine genetic myotonia”. Experimental Neurology 87 (1985): 377-381.
  24. Conravey A and Santana-Gould L. “Myotonia congenita and myotonic dystrophy: surveillance and management”. Current Treatment Options in Neurology 12 (2010): 16-28.
  25. Bryant SH and Morales-Aguilera A. “Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids”. The Journal of Physiology2 (1971): 367-383.
  26. George AL Jr., et al. “Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)”. Nature Genetics 4 (1993): 305-310.
  27. Koch MC., et al. “The skeletal muscle chloride channel in dominant and recessive human myotonia”. Science 5071 (1992): 797-800.
  28. Dunø M., et al. “Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype”. European Journal of Human Genetics: EJHG 9 (2004): 738-743.
  29. Tan SV., et al. “Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies”. Annals of Neurology 2 (2011): 328-340.
  30. Modoni A., et al. “Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita”. Journal of Clinical Neurophysiology 1 (2011): 39-44.
  31. Tang CY and Chen TY. “Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia”. Journal of Biomedicine and Biotechnology (2011): 685328.
  32. Arzel-Hézode M., et al. “Homozygosity for dominant mutations increases severity of muscle channelopathies”. Muscle Nerve 4 (2010): 470-477.
Citation: Musa Juna., et al. “Lid Lag Phenomenon Revealing Myotonia Congenita: Case Report”. EC Neurology 12.12 (2020): 28-35.

PubMed Indexed Article


EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005


EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777


EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347


EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478


EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253


EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033


EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992


EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505


EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793


EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211


EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047


EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560


EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318


EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819


EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840


EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344


EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476


EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658


EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489


EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278


EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108


EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571


EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333


EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883


EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001


EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937


EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723


EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726


EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603


EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646


EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616


EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290


EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226


EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812


EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268


News and Events


December Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the December issue of respective journals and the latest articles can be viewed on the current issue pages.

Submission Deadline for Upcoming Issue

ECronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before December 17, 2021.

Certificate of Publication

ECronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

ECronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.

Immediate Assistance

The prime motto of this team is to clarify all the queries without any delay or hesitation to avoid the inconvenience. For immediate assistance on your queries please don't hesitate to drop an email to editor@ecronicon.uk