Could it be Myotonic Dystrophy? Myotonic Dystrophy Presenting with Atrial Flutter

1992 ◽  
Vol 37 (5) ◽  
pp. 149-150 ◽  
Author(s):  
J.S. McLay ◽  
A. Norris ◽  
F. Kerr
Keyword(s):  
Skeletal Muscle ◽  
Myotonic Dystrophy ◽  
Autosomal Dominant ◽  
Cataract Formation ◽  
Multisystem Disorder ◽  
Inherited Disorders ◽  
Variable Expression ◽  
Gonadal Atrophy ◽  
Clinical Presentations ◽  
Autosomal Dominant Fashion

Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 191. The disease itself is characterised by rigidity and degeneration of skeletal muscle, cataract formation, gonadal atrophy, frontal baldness and mental retardation. Like many inherited disorders there is a variable expression and so diverse clinical presentations can occur2.

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

2018 ◽  
Vol 79 (3-4) ◽  
pp. 166-170
Author(s):  
Salvatore Rossi ◽  
Angela Romano ◽  
Anna Modoni ◽  
Francesco Perna ◽  
Valentina Rizzo ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Peripheral Nerves ◽  
Autosomal Dominant ◽  
Disease Onset ◽  
Clinical Signs ◽  
Myotonic Dystrophy Type ◽  
Multisystem Disorder ◽  
Myotonic Dystrophy Type 2 ◽  
Cctg Repeat

Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported. Here, we describe 2 related DM2 patients both of whom displayed an atypical disease onset characterized by dysautonomic symptoms, possibly secondary to peripheral neuropathy.

Myotonic Dystrophy

2018 ◽  
Author(s):  
Andrea Johnson
Keyword(s):  
Skeletal Muscle ◽  
Cognitive Impairment ◽  
Sleep Apnea ◽  
Myotonic Dystrophy ◽  
Pediatric Patients ◽  
Autosomal Dominant ◽  
Anesthetic Management ◽  
Cardiac Conduction ◽  
Autosomal Dominant Disorder ◽  
Skeletal Muscle Weakness

Myotonic dystrophy (DM) is a multisystemic autosomal dominant disorder. Individuals may present with symptoms at any age, but pediatric patients typically will present before 10 years of age. The clinical features of DM differ depending on the type of dystrophy and include skeletal muscle weakness, myotonia, sleep apnea, decreased gastrointestinal motility, insulin hypersecretion, cardiac conduction abnormalities, and occasionally cognitive impairment. Anesthetic management of the patient with DM should begin in the preoperative arena and should take into account the postoperative considerations and concerns for the patient with DM. This chapter will help the clinician develop an appropriate anesthetic plan and implement a safe and effective perioperative experience.

scholarly journals Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 936
Author(s):  
Mathis Hildonen ◽  
Kirsten Lykke Knak ◽  
Morten Dunø ◽  
John Vissing ◽  
Zeynep Tümer
Keyword(s):  
Myotonic Dystrophy ◽  
Autosomal Dominant ◽  
Maternal Inheritance ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Muscle Loss ◽  
Multisystem Disorder ◽  
Ctg Repeat ◽  
Over Time

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder mainly characterized by gradual muscle loss, weakness, and delayed relaxation after muscle contraction. It is caused by an expanded CTG repeat in the 3′ UTR of DMPK, which is transcribed into a toxic gain-of-function mRNA that affects the splicing of a range of other genes. The repeat is unstable, with a bias towards expansions both in somatic cells and in the germline, which results in a tendency for earlier onset with each generation, as longer repeat lengths generally correlate with earlier onset. Previous studies have found hypermethylation in the regions flanking the repeat in congenital onset DM1 and in some patients with non-congenital DM1. We used pyrosequencing to investigate blood methylation levels in 68 patients with non-congenital DM1, compare the methylation levels between the blood and muscle, and assess whether methylation levels change over time in the blood. We found higher methylation levels in the blood of DM1 patients than in healthy controls and especially in the patients who had inherited the disease allele maternally. The methylation levels remained relatively stable over time and are a strong biomarker of the disease, as well as of the maternal inheritance of the disease.

scholarly journals Case report on Tuberous Sclerosis

2014 ◽  
Vol 2 (4) ◽  
pp. 208-210
Author(s):  
Sushma Shrestha ◽  
Sabina Shrestha ◽  
Anil Raj Ojha
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Rare Genetic Disorder ◽  
Autosomal Dominant Fashion

Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of an 11 year male child with tuberous sclerosis.DOI: http://dx.doi.org/10.3126/jkmc.v2i4.11798Journal of Kathmandu Medical CollegeVol. 2, No. 4, Issue 6, Oct.-Dec., 2013Page : 208-210

scholarly journals Incidental diagnosis of tuberous sclerosis in a child with falciparum malaria

2016 ◽  
Vol 4 (1) ◽  
pp. 269
Author(s):  
Sanjay Singla ◽  
Anuradha Sanadhya ◽  
Suresh Goyal ◽  
Amzad Khan ◽  
Chakshu Chaudhry
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Female Child ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Incidental Diagnosis ◽  
Autosomal Dominant Fashion ◽  
Typical Skin

Tuberous sclerosis complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of a 14 year female child presenting with seizure, mental retardation and typical skin manifestations.

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

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