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1.
J Vet Med Sci ; 85(8): 876-879, 2023 Aug 01.
Article in English | MEDLINE | ID: mdl-37357395

ABSTRACT

We present the report of trismus due to hyperadrenocorticism-associated myotonia diagnosed by electromyography in a dog. An intact female Miniature Dachshund, 13 years and 9 months old, presented with stiff gait and trismus as well as polyuria and polydipsia. Abdominal ultrasonography showed enlarged adrenal glands. An adrenocorticotropic hormone stimulation test revealed an exaggerated response. Based on these findings, this case was diagnosed with hyperadrenocorticism. Electromyography revealed myotonic discharge in the temporalis muscle and limbs. Therefore, trismus was considered to be caused by hyperadrenocorticism-associated myotonia, and the case was treated with oral trilostane (1.3 mg/kg, once daily). During the 4-month follow-up period, despite the partial improvement in stiff gait, trismus did not recover. Long-term data on more cases are warranted to assess the prognosis and clinical characteristics of trismus due to hyperadrenocorticism-associated myotonia.


Subject(s)
Adrenocortical Hyperfunction , Dog Diseases , Myotonia , Dogs , Female , Animals , Myotonia/complications , Myotonia/veterinary , Trismus/veterinary , Trismus/complications , Dog Diseases/diagnosis , Dog Diseases/drug therapy , Dog Diseases/etiology , Adrenocortical Hyperfunction/complications , Adrenocortical Hyperfunction/veterinary , Adrenocorticotropic Hormone
2.
Folia Med (Plovdiv) ; 64(2): 333-336, 2022 Apr 30.
Article in English | MEDLINE | ID: mdl-35851789

ABSTRACT

Myotonic dystrophy type 1 or Steinert's disease is an autosomal dominant multisystem disease which is characterized by consistent contracture of muscle following stimulation (myotonia). Hypothermia, shivering, mechanical or electric stimulation during surgery can precipitate episodes of myotonia which may complicate the course of anaesthesia. The present case report focuses on successful strategies for providing general anaesthesia for laparoscopic cholecystectomy in a patient affected by this genetic disorder, at a hospital which does not have the facility for postoperative ventilation.


Subject(s)
Cholecystectomy, Laparoscopic , Myotonia , Myotonic Dystrophy , Anesthesia, General , Anesthesia, Intravenous , Humans , Myotonia/complications , Myotonic Dystrophy/complications , Myotonic Dystrophy/genetics
7.
J Neural Transm (Vienna) ; 121(5): 549-53, 2014 May.
Article in English | MEDLINE | ID: mdl-24366529

ABSTRACT

Centronuclear myopathy (CNM) is a rare hereditary myopathy characterized by centrally located muscle fiber nuclei. Mutations in the dynamin 2 (DNM2) gene are estimated to account for about 50 % of CNM cases. Electromyographic recordings in CNM may show myopathic motor unit potentials without spontaneous activity at rest. Myotonic discharges, a distinctive electrical activity caused by membrane hyperexcitability, are characteristic of certain neuromuscular disorders. Such activity has been reported in only one CNM case without a known genetic cause. We sequenced the DNM2 gene and the genes associated with myotonia (CLCN1, SCN4A, DMPK and ZNF9) in a sporadic adult patient with CNM and myotonic discharges. Sequencing the entire coding region and exon-intron boundaries revealed a heterozygous c.1106g-a substitution in exon 8, resulting in a R369Q change in the DNM2. Sequencing the CLCN1, SCN4A, DMPK and ZNF9 genes ruled out mutations in these genes. This is the first report of DNM2-related CNM presenting with myotonia. The diagnosis of CNM should be considered in patients with myotonic discharges of an unknown cause.


Subject(s)
Dynamin II/genetics , Myopathies, Structural, Congenital/complications , Myopathies, Structural, Congenital/genetics , Myotonia/complications , Myotonia/genetics , Adult , Base Sequence , Chloride Channels/genetics , DNA Mutational Analysis , Electromyography , Female , Humans , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Myopathies, Structural, Congenital/pathology , Myopathies, Structural, Congenital/physiopathology , Myotonia/pathology , Myotonia/physiopathology , Myotonin-Protein Kinase/genetics , NAV1.4 Voltage-Gated Sodium Channel/genetics , RNA-Binding Proteins/genetics
9.
J Neurol Sci ; 315(1-2): 15-9, 2012 Apr 15.
Article in English | MEDLINE | ID: mdl-22257501

ABSTRACT

Mutations in the pore-forming subunit of the skeletal muscle sodium channel (SCN4A) are responsible for hyperkalemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are classified based on their cardinal symptoms, myotonia and/or paralysis. We report the case of a Japanese boy with a novel mutation of SCN4A, p.I693L, who exhibited severe episodic myotonia from infancy and later onset mild paralytic attack. He started to have apneic episodes with generalized hypertonia at age of 11 months, then developed severe episodic myotonia since 2 years of age. He presented characteristic generalized features which resembled Schwarz-Jampel syndrome. After 7 years old, paralytic episodes occurred several times a year. The compound muscle action potential did not change during short and long exercise tests. Functional analysis of the mutant channel expressed in cultured cell revealed enhancement of the activation and disruption of the slow inactivation, which were consistent with myotonia and paralytic attack. The severe clinical features in his infancy may correspond to myotonia permanence, however, he subsequently experienced paralytic attacks. This case provides an example of the complexity and overlap of the clinical features of sodium channel myotonic disorders.


Subject(s)
Mutation/genetics , Myotonia/diagnosis , NAV1.4 Voltage-Gated Sodium Channel/genetics , Paralysis/diagnosis , Paralysis/genetics , Severity of Illness Index , Child , Humans , Male , Myotonia/complications , Myotonia/genetics , Paralysis/complications
10.
Nervenarzt ; 82(4): 511-20; quiz 521, 2011 Apr.
Article in German | MEDLINE | ID: mdl-21484581

ABSTRACT

The myotonias and familial periodic paralyses are muscle channelopathies. They have in common an impaired muscle excitation that is caused by mutations in voltage-gated Na(+), K(+), Ca(2+), and Cl(-) channels. Membrane hyperexcitability usually results in myotonic stiffness; with increasing membrane depolarization hyperexcitability can be transiently turned into hypoexcitability causing transient weakness as in severe myotonia. Hypoexcitability due to long-lasting depolarization that inhibits action potential generation is the common mechanism for the periodic paralyses. Interictally, the ion channel malfunction may be compensated, so that specific exogenous or endogenous provocative factors are required to produce symptoms in the patients. An especially obvious triggering agent is the level of serum potassium, the ion decisive for resting membrane potential and degree of excitability. Periodic paralysis mutations for which the ion channel malfunction is not fully compensated interictally cause progressive myopathy.


Subject(s)
Channelopathies/genetics , Ion Channels/genetics , Muscle, Skeletal/physiopathology , Myotonia/genetics , Paralysis/genetics , Channelopathies/complications , Humans , Mutation , Myotonia/complications , Paralysis/complications
11.
J Neurol ; 256(6): 939-47, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19252786

ABSTRACT

To determine self-reported health status in non-dystrophic myotonias (NDM) and its relationship to painful myotonia and fatigue. In a cross-sectional study, 32 NDM patients with chloride and 30 with sodium channelopathies, all off treatment, completed a standardised interview, the fatigue assessment scale (FAS), and the 36-item Short-Form Health Survey (SF-36). Beside formal assessment of pain, assessment of painful or painless myotonia was determined. The domain scores of the SF-36 were compared with Dutch community scores. Apart from the relationship among SF-36 scores and (1) painful myotonia and (2) fatigue, regression analyses in both NDM groups were conducted to determine the strongest determinants of the SF-36 domains general health perception, physical component (PCS) and mental component summary (MCS). All physically oriented SF-36 domains in both NDM groups (P

Subject(s)
Fatigue/complications , Health Status , Myotonia/complications , Myotonia/psychology , Pain/complications , Adult , Aged , Chloride Channels , Cross-Sectional Studies , Female , Humans , Interview, Psychological , Male , Middle Aged , Multivariate Analysis , Regression Analysis , Reproducibility of Results , Severity of Illness Index , Sodium Channels , Young Adult
12.
Heart Vessels ; 24(1): 46-53, 2009 Jan.
Article in English | MEDLINE | ID: mdl-19165569

ABSTRACT

Severe motor and intellectual disabilities (SMID) syndrome is a heterogeneous group of disorders with severe physical disabilities and mental retardation. Higher incidence of sudden death is also known in these patients. However, little is known about the cardiovascular features of patients with SMID. We examine the patients with severe motor and intellectual disabilities using echocardiogram and clarify their characterization of ventricular function. We performed electrocardiographic and echocardiographic analyses in SMID patients. In all patients, two-dimensional echocardiography with tissue Doppler analysis in the pulsed Doppler mode was performed. Of 121 patients, 104 patients had abnormal findings: 81 had poor R-wave progression, and 15 patients had low-voltage QRS on ECG. These findings strongly correlated with the degree of physical disability. However, on echocardiography, most patients had LVEF in the normal range, while LV Tei indices were significantly higher (0.43 vs 0.31 cm/s) and left ventricular end-diastolic dimension significantly smaller than healthy controls (P<0.05 for each comparison). Patients had significantly decreased early diastolic tissue Doppler velocities at the lateral mitral (5.3 vs 6.7 cm/s), tricuspid (6.7 vs 9.2 cm/s), and septal (5.9 vs 8.8 cm/s) annuli compared with controls (P<0.05 for each comparison). We show for the first time that SMID patients have low E/Ea ratios on tissue Doppler imaging while LV contractions are normal, suggesting the existence of latent diastolic dysfunction. This may be one of the reasons why the incidence of sudden death is higher in SMID patients.


Subject(s)
Disability Evaluation , Echocardiography, Doppler/methods , Electrocardiography/methods , Intellectual Disability/rehabilitation , Myotonia/rehabilitation , Ventricular Dysfunction/diagnosis , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Intellectual Disability/complications , Male , Middle Aged , Myotonia/complications , Prognosis , Retrospective Studies , Stroke Volume/physiology , Ventricular Dysfunction/complications , Ventricular Dysfunction/rehabilitation , Young Adult
13.
Neurology ; 69(20): 1937-41, 2007 Nov 13.
Article in English | MEDLINE | ID: mdl-17998485

ABSTRACT

BACKGROUND: Myotonia is observed in classic congenital myotonia caused by CLCN1 mutations and in sodium-channel myotonia (SCM) due to SCN4A mutations. METHODS: We assessed 66 electrically proven cases of myotonia belonging to 17 French-Canadian families living in the Saguenay Lac St-Jean area of Quebec, a region well known for its genetic founder effects. The CLCN1 gene was sequenced in one affected member of each family. SCN4A exons with known SCM mutations were subsequently sequenced in families where no CLCN1 mutations were found. RESULTS: Six families, 33% of cases (22/66), presenting classic congenital myotonia phenotypes were found to carry two previously identified CLCN1 mutations. In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype. Although all carriers of this novel mutation had electrical myotonia, some were asymptomatic (25%) and age at onset was variable in the others (5 to 67, mean 21). Cold aggravated myotonia was observed in 41% of cases and painful myotonia in 18%. Additional features observed include aggravation of symptoms with pregnancies (7%), localized muscle swelling (2%), myotonic reactions to anesthesia (2%), and food-induced paralysis (2%). CONCLUSIONS: This cohort is the largest described with a variable sodium-channel myotonia phenotype caused by a single SCN4A mutation. The clinical variability observed in this cohort underlines the phenotypic heterogeneity of SCN4A mutations and suggests that variants in other genes likely modulate clinical expression.


Subject(s)
Cold Temperature/adverse effects , Founder Effect , Myotonia/genetics , Pain/genetics , Sodium Channels/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , France/ethnology , Humans , Male , Middle Aged , Mutation , Myotonia/complications , Myotonia/diagnosis , NAV1.4 Voltage-Gated Sodium Channel , Pain/complications , Pain/diagnosis , Quebec , White People/genetics
14.
Article in English | MEDLINE | ID: mdl-16418670

ABSTRACT

A 6-year-old boy with Schwartz-Jampel syndrome and severe myotonia-induced blepharospasm and ptosis did not respond to botulinum toxin A injections in the orbicularis muscle. The clinical diagnosis was further supported by electromyography. Surgical management using a combination of techniques in one operation produced a satisfactory result for both function and appearance. Muscle biopsy was also done during surgery.


Subject(s)
Blepharoplasty/methods , Blepharoptosis/surgery , Blepharospasm/surgery , Botulinum Toxins, Type A/administration & dosage , Myotonia/complications , Neuromuscular Agents/administration & dosage , Osteochondrodysplasias/complications , Blepharoptosis/drug therapy , Blepharoptosis/etiology , Blepharospasm/drug therapy , Blepharospasm/etiology , Child , Humans , Injections, Intramuscular , Male , Myotonia/drug therapy , Myotonia/pathology , Oculomotor Muscles/pathology , Oculomotor Muscles/surgery , Osteochondrodysplasias/drug therapy , Osteochondrodysplasias/surgery , Treatment Failure
15.
Spec Care Dentist ; 26(5): 225-9, 2006.
Article in English | MEDLINE | ID: mdl-17249445

ABSTRACT

Schwartz-Jampel syndrome (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and growth retardation. The clinical signs and symptoms of SJS are seen in the maxillofacial region. The combination of skeletal and muscular abnormalities predisposes affected individuals to a number of primary and secondary orodental manifestations. Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder. This article reviews the dental manifestations and impairments of Schwartz-Jampel syndrome. The case histories of two siblings diagnosed with this disorder are described as well as their dental care.


Subject(s)
Anodontia/complications , Contracture/complications , Dental Care for Chronically Ill , Maxillofacial Abnormalities/complications , Micrognathism/complications , Oral Health , Osteochondrodysplasias/complications , Adolescent , Anodontia/diagnostic imaging , Dental Arch , Female , Humans , Male , Malocclusion/complications , Malocclusion/diagnostic imaging , Micrognathism/diagnostic imaging , Myotonia/complications , Radiography , Siblings
16.
Prensa méd. argent ; 92(9): 557-567, nov. 2005. graf
Article in Spanish | BINACIS | ID: bin-648

ABSTRACT

Fowler y col. en 1988 describieron una entidad en mujeres jóvenes con retención de orina en las cuales la EMG de esfínter uretral revelaba la presencia de descargas pseudomiotónicas. Bertotti y col. en el año 2002 describieron este tipo de actividad anormal en uretra y otros músculos pelvianos en mujeres pre y post menopáusicas denominándola descargas repetitivas anormales. El objetivo comunicar la presencia de actividad repetitiva anormal en uretra mascullina en hombres con Retención de orina


Subject(s)
Adult , Male , Humans , Aged , Urinary Retention/diagnosis , Urinary Retention/etiology , Urination , Urethra/abnormalities , Urethral Obstruction , Myotonia/complications , Myotonia/diagnosis , Myotonia/diagnostic imaging , Electromyography
17.
Clin Neurophysiol ; 114(12): 2347-54, 2003 Dec.
Article in English | MEDLINE | ID: mdl-14652094

ABSTRACT

OBJECTIVE: In this paper we report a painful nondystrophic myotonia which has not been previously described. Pain is a rare symptom in myotonia. We report a myotonic disorder in a 34-year-old woman and her 14-year-old daughter. Painful cramps occur during and after exercise in the mother, and both patients can demonstrate unusual contractions in the tongue. In the present study we try to evaluate the mechanisms behind the unique finding of trains of high amplitude of positive waves, not seen in the earlier known myotonic conditions. METHODS: Clinical investigations and electromyography with single and dual channel recordings and muscle morphometry were performed. RESULTS: The electromyographic recordings reveal positive waves, fibrillation potentials and myotonic discharges. In addition, extraordinary findings were made of trains of high frequency positive potentials with very high amplitudes and with conduction block along the muscle fibres. CONCLUSIONS: In this new form of myotonia with likely dominant heredity, the specific finding of trains of high amplitude positive waves indicates ephaptic transmission within bundles of neighbouring muscle fibres.


Subject(s)
Myotonia/complications , Myotonia/physiopathology , Pain/etiology , Pain/physiopathology , Tongue/physiopathology , Adolescent , Adult , Electromyography , Female , Humans , Muscle Cramp/etiology , Muscle Cramp/genetics , Muscle Cramp/physiopathology , Myotonia/genetics , Pain/genetics , Pedigree , Tongue/innervation
18.
Cir. Esp. (Ed. impr.) ; 70(4): 182-186, oct. 2001. tab, ilus
Article in Es | IBECS | ID: ibc-839

ABSTRACT

Introducción. La cirugía del hiato esofágico se ha convertido en una de las mejores indicaciones para el abordaje laparoscópico. Sin embargo, se ha evidenciado una mayor incidencia de recidivas precoces que precisan ser reintervenidas, y se ha propuesto que las reintervenciones sobre el hiato previamente operado pueden ser factibles mediante abordaje laparoscópico manteniendo las ventajas de un abordaje mínimamente invasivo. Objetivo. Evaluar los resultados inmediatos del abordaje laparoscópico del hiato operado previamente. Material y métodos. Entre enero de 1998 y septiembre de 2001 se han efectuado 126 intervenciones sobre el hiato esófagico (101 por reflujo y/o hernia hiatal y 25 por acalasia). De ellos, 7 pacientes habían sido previamente intervenidos. Se ha analizado edad, tipo de cirugía previa, estancia, conversión y morbilidad. Resultados. Esta serie incluye 3 varones y 4 mujeres. Cinco de ellos habían sido intervenidos de forma abierta (tres por hernia de hiato, uno por acalasia y otro por úlcera duodenal perforada) y dos pacientes habían sido intervenidas de forma laparoscópica por hernia de hiato. En seis de los siete pacientes (86 por ciento) la reintervención se completó por laparoscopia, con un tiempo quirúrgico medio de 230 min (límites, 180-300). Se efectuaron 4 funduplicaturas de Nissen y una ampliación de la miotomía más funduplicatura tipo Dor. La estancia media fue de 3,5 días, sin complicaciones y los pacientes permanecen asintomáticos tras un seguimiento de 9,8 meses (límites, 4-17 meses). Conclusiones. Las reintervenciones laparoscópicas del hiato esofágico son factibles y a la vez se acompañan de una evolución similar a las intervenciones laparoscópicas convencionales (AU)


Subject(s)
Adult , Aged , Female , Male , Middle Aged , Humans , Laparoscopy/classification , Laparoscopy/methods , Esophageal Achalasia/surgery , Esophageal Achalasia/diagnosis , Hernia, Hiatal/surgery , Hernia, Hiatal/diagnosis , Duodenal Ulcer/surgery , Duodenal Ulcer/diagnosis , Laparoscopy/methods , Gastroesophageal Reflux/complications , Gastroesophageal Reflux/surgery , Gastroesophageal Reflux/diagnosis , Myotonia/surgery , Myotonia/complications , Myotonia/diagnosis
19.
Clin Neurophysiol ; 112(2): 294-9, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11165532

ABSTRACT

OBJECTIVES: To describe a case of equine muscular dystrophy with myotonia. METHODS: A 5-year-old horse presented with hypertrophy and delayed relaxation of the muscles of the hindlimbs from age 2 months. Testicular atrophy developed from 2 years of age. Action and percussion myotonia was associated with weakness in these muscles, and EMG showed diffuse myotonic discharges and myopathic features. Biopsy of the gluteal muscle showed adipose and connective tissue infiltration, marked variation in muscle fibre size, and moth-eaten, ring and whorled fibres. RESULTS: Injection of apamin, a peptide blocker of calcium-activated potassium channels, which inhibits myotonia in human myotonic dystrophy, was ineffective in blocking myotonic discharges. Discharges promptly abated with 2% lidocaine injection. CONCLUSIONS: Myotonia in this horse is associated with dystrophic changes similar to human myotonic dystrophy, though there are some pharmacological differences.


Subject(s)
Horse Diseases , Muscular Dystrophy, Animal/complications , Myotonia/veterinary , Anesthetics, Local/therapeutic use , Animals , Apamin/therapeutic use , Atrophy , Electromyography , Hindlimb , Horse Diseases/drug therapy , Horse Diseases/pathology , Horse Diseases/physiopathology , Horses , Hypertrophy , Lidocaine/therapeutic use , Male , Muscle Relaxation , Muscle Weakness/etiology , Muscle, Skeletal/drug effects , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Muscular Dystrophy, Animal/drug therapy , Muscular Dystrophy, Animal/pathology , Muscular Dystrophy, Animal/physiopathology , Myotonia/complications , Myotonia/drug therapy , Myotonia/physiopathology , Neural Conduction , Testis/pathology , Treatment Failure
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