scholarly journals Myophosphorylase deficiency (McArdle disease) in a patient with normal pregnancy and normal pregnancy outcome

2011 ◽  
Vol 4 (3) ◽  
pp. 120-121 ◽  
Author(s):  
Warwick Giles ◽  
Catherine Maher
Keyword(s):  
Skeletal Muscles ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Normal Pregnancy ◽  
Significant Rise ◽  
Women Of Childbearing Age ◽  
Childbearing Age ◽  
Fetal Head ◽  
Mcardle Disease ◽  
Exercise Induced

McArdle disease is a rare, mostly autosomal recessive disorder of deficient myophosphorylation of glycogen in skeletal muscles. Recent knowledge regarding this condition means that women of childbearing age with McArdle disease can expect to labour normally without ill effect. We report a case of a 30-year-old woman in her first pregnancy who had an episode of exercise-induced myoglobinuria with a significant rise in serum creatine kinase (CK) levels in early pregnancy who then laboured normally but did require a caesarean section for a malposition of the fetal head.

scholarly journals McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes

2021 ◽  
pp. 1753495X2110161
Author(s):  
Christopher M Nash ◽  
Nabha Shetty ◽  
Ashley Miller ◽  
Kyle McCoy
Keyword(s):  
Scoping Review ◽  
Pregnancy Outcomes ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Glycogen Metabolism ◽  
Limited Data ◽  
Genetic Condition ◽  
Second Stage ◽  
Mcardle Disease ◽  
Pregnancy And Delivery

McArdle disease is an autosomal recessive disorder affecting skeletal muscle glycogen metabolism. Limited data are available regarding pregnancy outcomes with this genetic condition. We present a recent case of a woman with McArdle disease, along with a scoping review of all published literature regarding pregnancy and delivery outcomes for women with McArdle disease. A total of 35 cases are summarised. Overall, pregnancy does not worsen or increase the risk for disease flare. Women can successfully deliver vaginally, with consideration of an assisted second stage recommended to reduce the risk of postpartum rhabdomyolysis.

scholarly journals Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives

1994 ◽  
Vol 21 (3) ◽  
pp. 203-212 ◽  
Author(s):  
A.G. Lacson ◽  
S.S. Seshia ◽  
H.B. Sarnat ◽  
J. Anderson ◽  
W.R. DeGroot ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Skeletal Muscles ◽  
Autosomal Recessive ◽  
Elevated Serum ◽  
Autosomal Recessive Disorder ◽  
Serum Creatine Kinase ◽  
Clinical Progression ◽  
Muscle Sample ◽  
Pathologic Features ◽  
Muscle Disorder

Abstract:We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.

scholarly journals FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant

2021 ◽  
pp. 1-7
Author(s):  
Muhammad Umair ◽  
Turki M. Alkharfy ◽  
Sajida Sajjad ◽  
Majid Alfadhel
Keyword(s):  
Skeletal Muscles ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Missense Variant ◽  
Cleidocranial Dysplasia ◽  
Gene Encoding ◽  
Phosphoinositide Phosphatase ◽  
Whole Exome ◽  
Poor Outcomes

Yunis-Varon syndrome (YVS; OMIM 216340) is a rare heterogeneous autosomal recessive disorder with easy recognition of characteristic severe neurological and skeletal abnormalities involving skeletal muscles and cartilages. This cleidocranial dysplasia is characterized by bone and tooth disorders; it also affects the cardiovascular system and tissues from ectoderm with very poor outcomes. Rarely, mutations of the <i>FIG4</i> gene, encoding a 50-phosphoinositide phosphatase have been identified as the cause for YVS. We report a neonate born to a consanguineous couple with typical clinical manifestations of YVS. Using whole-exome sequencing, we identified a novel homozygous missense variant (c.968A&#x3e;G; p.Gln323Arg) in the <i>FIG4</i> gene. Thus, our study expands the molecular and genetic spectrum of <i>FIG4</i>-associated mutations. To our knowledge, this is the first reported case of YVS from the Saudi population.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Appreciation of the importance of pregravid preparation and reproductive attitudes of women of childbearing age in the city of Omsk

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (6) ◽  
pp. 48-52
Author(s):  
E N Kravchenko ◽  
R A Morgunov
Keyword(s):  
Women Of Childbearing Age ◽  
Childbearing Age ◽  
Pregnancy And Childbirth ◽  
Perinatal Center ◽  
History Of ◽  
Group A ◽  
Group B ◽  
Complicated Pregnancy ◽  
The Relationship ◽  
The City

The aim of the study. Assess the importance of pregravid preparation and outcomes of pregnancy and childbirth, depending on the reproductive attitudes of women in the city of Omsk. Materials and methods. The study included 92 women who were divided into groups: group A (n=43) - women whose pregnancy was planned; group B (n=49) - women whose pregnancy occurred accidentally. Each group was divided into subgroups depending on age: from 18 to 30 and from 31 to 49 years. For each patient included in the study, a specially designed map was filled out. These patients were interviewed at the City Clinical Perinatal Center. Results. Comparative analysis revealed the relationship between the reproductive settings of women of childbearing age and the peculiarity of the course of pregnancy and childbirth in these patients. Summary. The majority of women of fertile age are married: in subgroup AA - 25 (96.2%), AB - 13 (76.5%), BA - 25 (92.6%), BB - 20 (91.0%). The predominant number of women of fertile age have one or more abortions: in subgroup AA - 12 (46.2%), AB - 6 (35.3%), in subgroups of comparison BA - 8 (29.6%), BB - 6 (27.3%). More than half of the women of fertile age surveyed have a history of untreated cervical pathology (from 40.8% to 64.7%). The course of pregnancy in women planning pregnancy in most cases proceeded without complications: in subgroup AA - 13 (50.0%), AB - 11 (64.7%). The most common cause of complicated pregnancy in women whose pregnancy occurred accidentally is the threat of spontaneous miscarriage: in subgroup BA - 15 (55.6%), BB - 16 (72.7%). The uncomplicated course of labor more often [subgroup AA - 19 (73.0%), AB - 12 (70.6%)] was observed in women whose pregnancy was planned and they were motivated to give birth to a healthy child.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

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