International Journal of Current Research and Review
ISSN: 2231-2196 (Print)ISSN: 0975-5241 (Online)
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IJCRR - 13(21), November, 2021

Pages: 39-41

Date of Publication: 09-Nov-2021


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\" Myotonic Myopathy - A Case Report \"

Author: Kakkad A., Ramanandi V., Desai A.

Category: Healthcare

Abstract:Background: Myotonia is a quite rare condition. The involvement of multiple systems makes the management of conditions difficult. The role of physiotherapy for such a rare condition is unexplored. Objective: The objective of this case study is to be clearer about the role of physiotherapy in the treatment of Myotonic-myopathy. Discussion: In this case report, the disease and its medical and physiotherapy management are discussed in brief. Conclusion: Patients suffering from myotonic myopathy can be benefited from a holistic approach with the combination of medicine and physiotherapy.

Keywords: Myotonia, Myopathy, Myotonic Myopathy, Muscle Relaxation Difficulty, Quality of life, Physiotherapy

Full Text:

Introduction

It is a rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.1 Myotonic Dystrophy (DM) is a type of muscular dystrophy that can affect skeletal muscles and other viscera in the human body. “Myotonia can be defined as an inability to relax muscles at will.” The term “muscular dystrophy” denotes progressive degeneration of muscles, with weakness and atrophy of the muscle. Myotonic dystrophy is often written as “DM” due to the Greek name, dystrophia myotonica. Steinert disease is another name occasionally used for this.2 Other synonyms are Curschmann-Batten-Steinert syndrome, Myotonia Atrophica, Myotonic Muscular Dystrophy, Proximal Myotonic Myopathy, Ricker Syndrome. It refers to two rare genetic disorders of muscle that affect multiple systems of the body. There are two main types.DM type 1 (DM1) is classified as mild DM1, classic DM1 as well as congenital DM1. Mild DM1 is identified by clouding of the eyes lenses (cataracts) and maintained muscle contractions (myotonia), where the muscle does not relax after contraction. Classic DM1 is identified by weakness and wasting of muscle (atrophy), myotonia, early onset of cataracts (before 50 years of age), and heart conduction abnormalities of electrical impulses. Congenital DM1 is identified by the weakness of muscle (hypotonia), difficulty in breathing, disability, and early chances of death. DM type 2 (DM2) manifests similar clinical features to DM1, but it is noted generally a less severe form of disorder and does not produce congenital disease. DM1 is due to a change in the DMPK gene. DM2 is due to a change in the CNBP gene. All these changes are in an autosomal dominant manner.3 There is currently no cure for myotonic dystrophy, there are ways to help manage the condition.4 It is characterized by myotonia, progressive muscle weakness, cataracts, and cardiac abnormalities as well as frontal balding and gonadal insufficiency in males. The primary genetic abnormality responsible for myotonic dystrophy has been identified as an expanded trinucleotide repeat (CTG) in the DM gene on chromosome 19.5 The progression of DM is variable among different individuals, but generally, symptoms progress low. Life span is reduced in patients having congenital DM1 and is likely reduced in patients having childhood DM1 and classic (adult-onset) DM1.6 It is an autosomal dominant inherited disorder.7

Case Report

Permission was taken from the head of the institution. Here reported case is of 18 years old male suffering from myotonic myopathy. At the age of 16 years, the patient had started feeling difficulty in walking and difficulty standing from cross leg sitting from the floor. During investigations, Creatine Phosphokinase level was found high i.e. 1084 U/L. Motor and Sensory nerve conduction studies were found normal. Electromyography revealed small amplitude, short duration, and polyphasic Motor Unit Action Potentials for all muscles when voluntary activity was recorded along with the presence of full and early recruitment with submaximal exercises and interference pattern was recorded suggestive of myotonic discharge. Pulmonary Function Test demonstrated severe restriction at the age of 17 years. 2DEcho was found with a normal Left Ventricular Ejection Fraction. The patient was given medicines as a supportive treatment only. Medicines used were Tab. Bonwell (Calcium Carbonate + Vitamin D3 1000 IU) and Tab. Evion (Vitamin E) 200 mg and also multivitamins occasionally.

Physiotherapy assessment demonstrated an absence of all the jerks in presence of normal tone and normal sensations. Muscle power assessed by Modified Medical Research Council grading was reduced in all the muscles of limbs and trunk. Physiotherapy treatment is directed towards developing good strength in all four limbs and trunks, functional balance, and gait training with more focus on functional rehabilitation as shown in Figure 1. The patient is currently under a strengthening regimen for all four limbs and functional training for activities of daily living. The patient is currently doing all his daily living activities along with continuing his job and can deal with his personal and social responsibilities well. Improvement in cardiopulmonary endurance is a long-term goal for maintaining a longer and quality life for the patient.

Discussion

The patient represents a rare case of myotonic myopathy. The patient is selected for the study as proper medical management along with appropriate physiotherapy showed improvement in the patient’s quality of life by increasing muscle strength. There are very few researches available for the role of physiotherapy in myotonic myopathy so more numbers of researches are needed to be done for long-term duration. This can also help for creating awareness about changing the common belief that for this type of patient, only maintenance of condition and preventing complication is not sufficient. This type of patient can be given improved strength, endurance, and quality of life even though the condition itself is not curable. There is no current evidence-based standard of care for patients with myotonic myopathy and no research was found.7

Conclusion:

From the present case study, it is concluded that patients suffering from myotonic myopathy can be benefited from a holistic approach with a combination of medicine and physiotherapy. The patient’s functional independence and quality of life can be improved by physiotherapy intervention. Future research is required for more pieces of evidence of physiotherapy in the treatment of Myotonic Myopathy.

Declaration by Patient:                                                                  

Informed written consent was signed by the patient.

Financial Support & Sponsorship:

Nil

Conflict of Interest:

None

Acknowledgement:

We would like to thank the Management of SPB Physiotherapy College, Surat for allowing us this research and Staff members for supporting this research.

Author’s contribution:

The first & second authors assessed and treated discussed the case and the third author reviewed the same.

Source of Funding:

Nil

References:

References

  1. Reserved I. Orphanet: Proximal myotonic myopathy [Internet]. Orpha.net. 2020 [cited 6 April 2020]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=606

  2. Diseases - Myotonic Dystrophy DM - Top Level | Muscular Dystrophy Association [Internet]. Muscular Dystrophy Association. 2020 [cited 6 April 2020]. Available from: https://www.mda.org/disease/myotonic-dystrophy

  3. Myotonic Dystrophy - NORD (National Organization for Rare Disorders) [Internet]. NORD (National Organization for Rare Disorders). 2020 [cited 6 April 2020]. Available from: https://rarediseases.org/rare-diseases/dystrophy-myotonic/

  4. The myotonic dystrophies - Muscular Dystrophy UK [Internet]. Musculardystrophyuk.org. 2020 [cited 6 April 2020]. Available from:https://www.musculardystrophyuk.org/about-muscle-wasting-conditions/myotonic-dystrophy/myotonic-dystrophy-factsheet/

  5. Stephan E. et. al.  Proximal Myotonic Myopathy: Clinical, Neuropathologic, and Molecular Genetic Features. ACLSS. 2001;31(2):140-146

  6. Diseases - Myotonic Dystrophy DM - Top Level | Muscular Dystrophy Association [Internet]. Muscular Dystrophy Association. 2020 [cited 6 April 2020]. Available from: https://www.mda.org/disease/myotonic-dystrophy

  7. Schulte-Mattler W, Zierz S, Eger K. Proximalemyotone. Myopathie (PROMM). Der Nervenarzt. 1997;68(10):839-844.

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One article from every issue is selected for the ‘Best Article Award’. Authors of selected ‘Best Article’ are rewarded with a certificate. IJCRR Editorial Board members select one ‘Best Article’ from the published issue based on originality, novelty, social usefulness of the work. The corresponding author of selected ‘Best Article Award’ is communicated and information of award is displayed on IJCRR’s website. Drop a mail to editor@ijcrr.com for more details.

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This award is instituted to encourage women researchers to publish her work in IJCRR. Women researcher, who intends to publish her research work in IJCRR as the first author is eligible to apply for this award. Editorial Board members decide on the selection of women researchers based on the originality, novelty, and social contribution of the research work. The corresponding author of the selected manuscript is communicated and information is displayed on IJCRR’s website. Under this award selected women, the author is eligible for publication incentives. Drop a mail to editor@ijcrr.com for more details.

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A Study by Humaira Tahir et al. entitled "Comparison of First Analgesic Demand after Major Surgeries of Obstetrics and Gynecology between Pre-Emptive Versus Intra-Operative Groups by Using Intravenous Paracetamol: A Cross-Sectional Study" is awarded Best Article for Vol 14 issue 14
A Study by Monica K. entitled "Risk Predictors for Lymphoma Development in Sjogren Syndrome - A Systematic Review" is awarded Best Article for Vol 14 issue 13
A Study by Mokhtar M Sh et al. entitled "Prevalence of Hospital Mortality of Critically Ill Elderly Patients" is awarded Best Article for Vol 14 issue 12
A Study by Vidya S. Bhat et al. entitled "Effect of an Indigenous Cleanser on the Microbial Biofilm on Acrylic Denture Base - A Pilot Study" is awarded Best Article for Vol 14 issue 11
A Study by Pandya S. et al. entitled "Acute and 28-Day Repeated Dose Subacute Toxicological Evaluation of Coroprotect Tablet in Rodents" is awarded Best Article for Vol 14 issue 10
A Study by Muhammad Zaki et al. entitled "Effect of Hemoglobin Level on the Severity of Acute Bronchiolitis in Children: A Case-Control Study" is awarded Best Article for Vol 14 issue 09
A Study by Vinita S & Ayushi S entitled "Role of Colour Doppler and Transvaginal Sonography for diagnosis of endometrial pathology in women presenting with Abnormal Uterine Bleeding" is awarded Best Article for Vol 14 issue 08
A Study by Prabhu A et al. entitled "Awareness of Common Eye Conditions among the ASHA (Accredited Social Health Activist) Workers in the Rural Communities of Udupi District- A Pilot Study" is awarded Best Article for Vol 14 issue 07
A Study by Divya MP et al. entitled "Non-Echoplanar Diffusion-Weighted Imaging and 3D Fiesta Magnetic Resonance Imaging Sequences with High Resolution Computed Tomography Temporal Bone in Assessment and Predicting the Outcome of Chronic Suppurative Otitis Media with Cholesteatoma" is awarded Best Article for Vol 14 issue 06
A Study by Zahoor Illahi Soomro et al. entitled "Functional Outcomes of Fracture Distal Radius after Fixation with Two Different Plates: A Retrospective Comparative Study" is awarded Best Article for Vol 14 issue 05
A Study by Ajai KG & Athira KN entitled "Patients’ Gratification Towards Service Delivery Among Government Hospitals with Particular Orientation Towards Primary Health Centres" is awarded Best Article for Vol 14 issue 04
A Study by Mbungu Mulaila AP et al. entitled "Ovarian Pregnancy in Kindu City, D.R. Congo - A Case Report" is awarded Best Article for Vol 14 issue 03
A Study by Maryam MJ et al. entitled "Evaluation Serum Chemerin and Visfatin Levels with Rheumatoid Arthritis: Possible Diagnostic Biomarkers" is awarded Best Article for Vol 14 issue 02
A Study by Shanthan KR et al. entitled "Comparison of Ultrasound Guided Versus Nerve Stimulator Guided Technique of Supraclavicular Brachial Plexus Block in Patients Undergoing Upper Limb Surgeries" is awarded Best Article for Vol 14 issue 01
A Study by Amol Sanap et al. entitled "The Outcome of Coxofemoral Bypass Using Cemented Bipolar Hemiarthroplasty in the Treatment of Unstable Intertrochanteric Fracture of Femur in a Rural Setup" is awarded Best Article Award of Vol 13 issue 24
A Study by Manoj KP et al. entitled "A Randomized Comparative Clinical Trial to Know the Efficacy of Ultrasound-Guided Transversus Abdominis Plane Block Against Multimodal Analgesia for Postoperative Analgesia Following Caesarean Section" is awarded Best Article Award of Vol 13 issue 23
A Study by Karimova II et al. entitled "Changes in the Activity of Intestinal Carbohydrases in Alloxan-Induced Diabetic Rats and Their Correction with Prenalon" is awarded Best Article of Vol 13 issue 22
A Study by Ashish B Roge et al. entitled "Development, Validation of RP-HPLC Method and GC MS Analysis of Desloratadine HCL and It’s Degradation Products" is awarded Best Article of Vol 13 issue 21
A Study by Isha Gaurav et al. entitled "Association of ABO Blood Group with Oral Cancer and Precancer – A Case-control Study" is awarded Best Article for Vol 13 issue 20
A Study by Amr Y. Zakaria et al. entitled "Single Nucleotide Polymorphisms of ATP-Binding Cassette Gene(ABCC3 rs4793665) affect High Dose Methotrexate-Induced Nephrotoxicity in Children with Osteosarcoma" is awarded Best Article for Vol 13 issue 19
A Study by Kholis Ernawati et al. entitled "The Utilization of Mobile-Based Information Technology in the Management of Dengue Fever in the Community Year 2019-2020: Systematic Review" is awarded Best Article for Vol 13 issue 18
A Study by Bhat Asifa et al. entitled "Efficacy of Modified Carbapenem Inactivation Method for Carbapenemase Detection and Comparative Evaluation with Polymerase Chain Reaction for the Identification of Carbapenemase Producing Klebsiella pneumonia Isolates" is awarded Best Article for Vol 13 issue 17
A Study by Gupta R. et al. entitled "A Clinical Study of Paediatric Tracheostomy: Our Experience in a Tertiary Care Hospital in North India" is awarded Best Article for Vol 13 issue 16
A Study by Chandran Anand et al. entitled "A Prospective Study on Assessment of Quality of Life of Patients Receiving Sorafenib for Hepatocellular Carcinoma" is awarded Best article for Vol 13 issue 15
A Study by Rosa PS et al. entitled "Emotional State Due to the Covid – 19 Pandemic in People Residing in a Vulnerable Area in North Lima" is awarded Best Article for Vol 13 issue 14
A Study by Suvarna Sunder J et al. entitled "Endodontic Revascularization of Necrotic Permanent Anterior Tooth with Platelet Rich Fibrin, Platelet Rich Plasma, and Blood Clot - A Comparative Study" is awarded Best Article for Vol 13 issue 13
A Study by Mona Isam Eldin Osman et al. entitled "Psychological Impact and Risk Factors of Sexual Abuse on Sudanese Children in Khartoum State" is awarded Best Article for Vol 13 issue 12
A Study by Khaw Ming Sheng & Sathiapriya Ramiah entitled "Web Based Suicide Prevention Application for Patients Suffering from Depression" is awarded Best Article for Vol 13 issue 11
A Study by Purushottam S. G. et al. entitled "Development of Fenofibrate Solid Dispersions for the Plausible Aqueous Solubility Augmentation of this BCS Class-II Drug" is awarded Best article for Vol 13 issue 10
A Study by Kumar S. et al. entitled "A Study on Clinical Spectrum, Laboratory Profile, Complications and Outcome of Pediatric Scrub Typhus Patients Admitted to an Intensive Care Unit from a Tertiary Care Hospital from Eastern India" is awarded Best Article for Vol 13 issue 09
A Study by Mardhiah Kamaruddin et al. entitled "The Pattern of Creatinine Clearance in Gestational and Chronic Hypertension Women from the Third Trimester to 12 Weeks Postpartum" is awarded Best Article for Vol 13 issue 08
A Study by Sarmila G. B. et al. entitled "Study to Compare the Efficacy of Orally Administered Melatonin and Clonidine for Attenuation of Hemodynamic Response During Laryngoscopy and Endotracheal Intubation in Gastrointestinal Surgeries" is awarded Best Article for Vol 13 issue 07
A Study by M. Muthu Uma Maheswari et al. entitled "A Study on C-reactive Protein and Liver Function Tests in Laboratory RT-PCR Positive Covid-19 Patients in a Tertiary Care Centre – A Retrospective Study" is awarded Best Article of Vol 13 issue 06 Special issue Modern approaches for diagnosis of COVID-19 and current status of awareness
A Study by Gainneos PD et al. entitled "A Comparative Evaluation of the Levels of Salivary IgA in HIV Affected Children and the Children of the General Population within the Age Group of 9 – 12 Years – A Cross-Sectional Study" is awarded Best Article of Vol 13 issue 05 Special issue on Recent Advances in Dentistry for better Oral Health
A Study by Alkhansa Mahmoud et al. entitled "mRNA Expression of Somatostatin Receptors (1-5) in MCF7 and MDA-MB231 Breast Cancer Cells" is awarded Best Article of Vol 13 issue 06
A Study by Chen YY and Ghazali SRB entitled "Lifetime Trauma, posttraumatic stress disorder Symptoms and Early Adolescence Risk Factors for Poor Physical Health Outcome Among Malaysian Adolescents" is awarded Best Article of Vol 13 issue 04 Special issue on Current Updates in Plant Biology to Medicine to Healthcare Awareness in Malaysia
A Study by Kumari PM et al. entitled "Study to Evaluate the Adverse Drug Reactions in a Tertiary Care Teaching Hospital in Tamilnadu - A Cross-Sectional Study" is awarded Best Article for Vol 13 issue 05
A Study by Anu et al. entitled "Effectiveness of Cytological Scoring Systems for Evaluation of Breast Lesion Cytology with its Histopathological Correlation" is awarded Best Article of Vol 13 issue 04
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A Study by Tarek Elwakil et al. entitled "Led Light Photobiomodulation Effect on Wound Healing Combined with Phenytoin in Mice Model" is awarded Best Article of Vol 13 issue 02
A Study by Mohita Ray et al. entitled "Accuracy of Intra-Operative Frozen Section Consultation of Gastrointestinal Biopsy Samples in Correlation with the Final Histopathological Diagnosis" is awarded Best Article for Vol 13 issue 01
A Study by Badritdinova MN et al. entitled "Peculiarities of a Pain in Patients with Ischemic Heart Disease in the Presence of Individual Combines of the Metabolic Syndrome" is awarded Best Article for Vol 12 issue 24
A Study by Sindhu Priya E S et al. entitled "Neuroprotective activity of Pyrazolone Derivatives Against Paraquat-induced Oxidative Stress and Locomotor Impairment in Drosophila melanogaster" is awarded Best Article for Vol 12 issue 23
A Study by Habiba Suhail et al. entitled "Effect of Majoon Murmakki in Dysmenorrhoea (Usre Tams): A Standard Controlled Clinical Study" is awarded Best Article for Vol 12 issue 22
A Study by Ghaffar UB et al. entitled "Correlation between Height and Foot Length in Saudi Population in Majmaah, Saudi Arabia" is awarded Best Article for Vol 12 issue 21
A Study by Siti Sarah Binti Maidin entitled "Sleep Well: Mobile Application to Address Sleeping Problems" is awarded Best Article for Vol 12 issue 20
A Study by Avijit Singh"Comparison of Post Operative Clinical Outcomes Between “Made in India” TTK Chitra Mechanical Heart Valve Versus St Jude Mechanical Heart Valve in Valve Replacement Surgery" is awarded Best Article for Vol 12 issue 19
A Study by Sonali Banerjee and Mary Mathews N. entitled "Exploring Quality of Life and Perceived Experiences Among Couples Undergoing Fertility Treatment in Western India: A Mixed Methodology" is awarded Best Article for Vol 12 issue 18
A Study by Jabbar Desai et al. entitled "Prevalence of Obstructive Airway Disease in Patients with Ischemic Heart Disease and Hypertension" is awarded Best Article for Vol 12 issue 17
A Study by Juna Byun et al. entitled "Study on Difference in Coronavirus-19 Related Anxiety between Face-to-face and Non-face-to-face Classes among University Students in South Korea" is awarded Best Article for Vol 12 issue 16
A Study by Sudha Ramachandra & Vinay Chavan entitled "Enhanced-Hybrid-Age Layered Population Structure (E-Hybrid-ALPS): A Genetic Algorithm with Adaptive Crossover for Molecular Docking Studies of Drug Discovery Process" is awarded Best article for Vol 12 issue 15
A Study by Varsha M. Shindhe et al. entitled "A Study on Effect of Smokeless Tobacco on Pulmonary Function Tests in Class IV Workers of USM-KLE (Universiti Sains Malaysia-Karnataka Lingayat Education Society) International Medical Programme, Belagavi" is awarded Best article of Vol 12 issue 14, July 2020
A study by Amruta Choudhary et al. entitled "Family Planning Knowledge, Attitude and Practice Among Women of Reproductive Age from Rural Area of Central India" is awarded Best Article for special issue "Modern Therapeutics Applications"
A study by Raunak Das entitled "Study of Cardiovascular Dysfunctions in Interstitial Lung Diseas epatients by Correlating the Levels of Serum NT PRO BNP and Microalbuminuria (Biomarkers of Cardiovascular Dysfunction) with Echocardiographic, Bronchoscopic and HighResolution Computed Tomography Findings of These ILD Patients" is awarded Best Article of Vol 12 issue 13 
A Study by Kannamani Ramasamy et al. entitled "COVID-19 Situation at Chennai City – Forecasting for the Better Pandemic Management" is awarded best article for  Vol 12 issue 12
A Study by Muhammet Lutfi SELCUK and Fatma entitled "Distinction of Gray and White Matter for Some Histological Staining Methods in New Zealand Rabbit's Brain" is awarded best article for  Vol 12 issue 11
A Study by Anamul Haq et al. entitled "Etiology of Abnormal Uterine Bleeding in Adolescents – Emphasis Upon Polycystic Ovarian Syndrome" is awarded best article for  Vol 12 issue 10
A Study by entitled "Estimation of Reference Interval of Serum Progesterone During Three Trimesters of Normal Pregnancy in a Tertiary Care Hospital of Kolkata" is awarded best article for  Vol 12 issue 09
A Study by Ilona Gracie De Souza & Pavan Kumar G. entitled "Effect of Releasing Myofascial Chain in Patients with Patellofemoral Pain Syndrome - A Randomized Clinical Trial" is awarded best article for  Vol 12 issue 08
A Study by Virendra Atam et. al. entitled "Clinical Profile and Short - Term Mortality Predictors in Acute Stroke with Emphasis on Stress Hyperglycemia and THRIVE Score : An Observational Study" is awarded best article for  Vol 12 issue 07
A Study by K. Krupashree et. al. entitled "Protective Effects of Picrorhizakurroa Against Fumonisin B1 Induced Hepatotoxicity in Mice" is awarded best article for issue Vol 10 issue 20
A study by Mithun K.P. et al "Larvicidal Activity of Crude Solanum Nigrum Leaf and Berries Extract Against Dengue Vector-Aedesaegypti" is awarded Best Article for Vol 10 issue 14 of IJCRR
A study by Asha Menon "Women in Child Care and Early Education: Truly Nontraditional Work" is awarded Best Article for Vol 10 issue 13
A study by Deep J. M. "Prevalence of Molar-Incisor Hypomineralization in 7-13 Years Old Children of Biratnagar, Nepal: A Cross Sectional Study" is awarded Best Article for Vol 10 issue 11 of IJCRR
A review by Chitra et al to analyse relation between Obesity and Type 2 diabetes is awarded 'Best Article' for Vol 10 issue 10 by IJCRR. 
A study by Karanpreet et al "Pregnancy Induced Hypertension: A Study on Its Multisystem Involvement" is given Best Paper Award for Vol 10 issue 09

List of Awardees

A Study by Ese Anibor et al. "Evaluation of Temporomandibular Joint Disorders Among Delta State University Students in Abraka, Nigeria" from Vol 13 issue 16 received Emerging Researcher Award


A Study by Alkhansa Mahmoud et al. entitled "mRNA Expression of Somatostatin Receptors (1-5) in MCF7 and MDA-MB231 Breast Cancer Cells" from Vol 13 issue 06 received Emerging Researcher Award


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