Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report

Abstract Emery-Dreifuss Muscular Dystrophy is a very rare type of muscular dystrophy, associated with contractures, atrophy, and muscle weakness, besides cardiomyopathy with severe arrhythmias. Published studies focusing on this disorder are scarce. We describe the anesthetic management of a male patient with Emery-Dreifuss Muscular Dystrophy, to be submitted to umbilical and inguinal hernioplasty and hydrocele repair under epidural anesthesia. The anesthesia approach enabled us to circumvent the patient's susceptibility to malignant hyperthermia and his potentially difficult airway, in addition to maintaining hemodynamic stability. The day after surgery the patient resumed walking, and two days later he was discharged from the hospital.

Reabilitação Cardíaca na Pessoa Transplantada com Distrofia Muscular de Emery-Dreifuss / Cardiac Rehabilitation in a Transplanted Person with Emery-Dreifuss Muscular Dystrophy

Resumo A distrofia muscular de Emery-Dreifuss é uma doença neuromuscular hereditária rara. Suas manifestações começam principalmente na infância. As manifestações mais frequentes são fraqueza muscular progressiva, atrofia que geralmente se inicia na região escápulo-vertebral, estendendo-se posteriormente para a cintura pélvica e rigidez da coluna vertebral. Os pacientes também podem manifestar envolvimento cardíaco como palpitações, síncope, intolerância ao exercício, insuficiência cardíaca congestiva e distúrbios variáveis do ritmo cardíaco. 1 - 3 A presença e a gravidade dessas manifestações podem variar de acordo com o indivíduo e os subtipos da doença. 2 O envolvimento cardíaco é a característica mais preocupante desta doença, havendo alguns relatos da necessidade de transplante cardíaco nesta distrofia. 4

Abstract Emery-Dreifuss muscular dystrophy is a rare hereditary neuromuscular disease. Its manifestations begin primarily in childhood. The most frequent manifestations are progressive muscle weakness, atrophy that usually begins in the scapula-vertebral region, extending later to the pelvic girdle, and spinal stiffness. Patients can also manifest cardiac involvement as palpitations, syncope, exercise intolerance, congestive heart failure, and variable heart rhythm disturbances.1 - 3 The presence and severity of these manifestations can vary according to the individual and the disease's subtypes. 2 Cardiac involvement is the most worrisome feature of this disease, and there are some reports of the need for heart transplantation in this dystrophy. 4

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of -Related Muscular Dystrophy / 中华医学杂志(英文版)

<p><b>Background</b>LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic resonance imaging (MRI) has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes.</p><p><b>Methods</b>Twenty-two patients with LMNA-related muscular dystrophies were enrolled in this study. MRI of the thigh and/or calf muscles was performed in them. The muscle MRI features of the three subtypes were compared by the Mann-Whitney U-test. The relationship between the clinical and MRI findings was also investigated by Spearman's rank analyses.</p><p><b>Results</b>The present study included five EDMD, nine LGMD, and eight L-CMD patients. The thigh muscle MRI revealed that the fatty infiltration of the adductor magnus, semimembranosus, long and short heads of the biceps femoris, and vasti muscles, with relative sparing of the rectus femoris, was the predominant change observed in the EDMD, LGMD, and advanced-stage L-CMD phenotypes, although the involvement of the vasti muscles was not prominent in the early stage of L-CMD. At the level of the calf, six patients (one EDMD, four LGMD, and one L-CMD) also showed a similar pattern, in which the soleus and the medial and lateral gastrocnemius muscles were most frequently observed to have fatty infiltration. The fatty infiltration severity demonstrated higher scores associated with disease progression, with a corresponding rate of 1.483 + 0.075 × disease duration (X) (r = 0.444, P = 0.026). It was noteworthy that in six L-CMD patients with massive inflammatory cell infiltration in muscle pathology, no remarkable edema-like signals were observed in muscle MRI.</p><p><b>Conclusions</b>EDMD, LGMD and advanced-staged L-CMD subtypes showed similar pattern of muscle MRI changes, while early-staged L-CMD showed somewhat different changes. Muscle MRI of L-CMD with a muscular dystrophy pattern in MRI provided important clues for differentiating it from childhood inflammatory myopathy. The fatty infiltration score could be used as a reliable biomarker for outcome measure of disease progression.</p>

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy. RESULTS: Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. CONCLUSIONS: Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy.

An uncommon variant of rare type of muscular dystrophy.

The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.

A family with autosomal dominant Emery-Dreifuss muscular dystrophy and literature review / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics,muscle pathological features and pathogenic gene mutation of a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).Methods Clinical data of the proband and her family members,a Chinese family of AD-EDMD,were collected.Skeletal muscle specimens were collected from the proband for pathological analysis.Genomic DNA from the proband and her parents was extracted using standard procedures from the peripheral blood leukocytes.PCR and DNA direct sequencing were employed to analyze all of the 12 exons of the LMNA gene to determine the gene mutation,and the case was summarized along with related literature review.Results The proband,female,4 years and 5 months old now,presented with muscle weakness during her early childhood,the proximally was more prominent,mild pectus excavatum.Her CK level was elevated,her electromyogram showed myogenic injuries,the muscle biopsy showed myopathy changes.Her father had the same symptom,with disease progressed,showed elbow contractures in early stage,stiff neck,tight achilles tendon,slowly progressive muscle weakness of the limbs,sinus bradycardia.A heterozygous missense mutation c.1580G ＞ C (p.Arg527Pro) was identified in exon 9 of the LMNA gene in the proband and her father,but not in her mother.This heterozygous missense mutation had been reported as a pathogenic gene mutation.Conclusions The patient who has elbow contractures in early stage,limited neck flexion,spine stiffness,muscle weakness with the proximal upper limbs and distal lower limbs,and arrhythmia,should have an analysis of the LMNA gene.It's important for the early diagnosis of EDMD,assessment of the prognosis,timely and effectively monitoring the changes of arrhythmia,then taking interventions to improve the quality of life and prolong life.So genetic analysis is most reliable method to diagnose EDMD.

Emery Dreifuss muscular Dystrophy: A case report

Emery-Dreifuss muscular dystrophy(EDMD) is a very rare, has never reported in Korea, relatively benign muscle disorder caused by defects of emerin. The clinical triad include 1) early contracture of the elbows, Achilles tendons, and postcervical muscles, 2) progressive weakness and atrophy in a humeroperoneal distribution, and 3) cardiomyopathy characterized by conduction defect. Heart block is a frequent cause of death. The detection of this disorder is important because insertion of a cardiac pacemaker can be life saving. As emerin was not found in biopsies from patients affected by EDMD and most mutations in EDMD are null, the immunohistochemical diagnosis can be easily performed by detection the absence of emerin. We report a 14-year-old boy with slowly progressive scapuloperoneal muscle weakness and atrophy, and contracture of the Achilles tendons, elbows and postcervical muscles. Muscle biopsy showed marked atrophy of myofiber and increased intermysial fibrosis and immunohistochemical study showed emerin deficiency.

Emery-Dreifuss Muscular Dystrophy with Cardiac Involvement

Emery-Dreifuss muscular dystrophy has become recognized as a distinct neuromuscular disorder with features including X-linked inheritance, insidious onset in childhood of a distinct pattern of muscle contractures and weakness, slow progression without loss of ambulation, and occurrence by mid-childhood of atrial conduction defects, which, if untreated, cause sudden death. We report a case of Emery-Dreifuss dystrophy with cardiac involvement of atrial standstill. The patient was 24 year-old man, who had suffered from dyspnea and bradycardia and was inserted by VVI type permanent pacemaker. Cardiac involvement usually becomes evident as muscle weakness progress and provided that the diagnosis is made sufficiently early, the insertion of a cardiac pacemaker can be life saving.

Characters of clinical and pathological and the expressions of emerin protein and STA gene on Emery-Dreifuss muscular dystrophy:report of one case / 临床神经病学杂志

Objective To investigate clinical manifestation and pathological changes and the expressions of Emerin protein and STA gene of Emery-Dreifuss muscular dystrophy (EDMD).Methods The clinical features and STA gene detection from one patient with EDMD were analyzed retrospectively. Results The onset age of this patient was in early childhood. The four limbs were progressive muscle weakness and muscular atrophy. There were joint contractures and cardiac involvement in the early stage. The serum muscle enzymes increased slightly. The pathological changes in muscles showed that the sizes of muscle fibers were different, the fibers became spherical and some fibers were replaced by fat. Because of normal spinal anterior horn cells and sural nerves, neurogenic muscular atrophy might be ruled out. Emerin protein could not be tested in striated muscle and cardiac muscle. No mutation of STA gene was found in this case. Conclusions Emery-Dreifuss muscular dystrophy is one particular type of muscular dystrophy. It is characterized with joint contractures and cardiac involvement in the early stage. Emerin protein is deficient in EDMD. There is no mutation of STA gene in sporadic EDMD.