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 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 Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nobuhiro Hashimoto ◽  
Sumito Dateki ◽  
Eri Suzuki ◽  
Takatoshi Tsuchihashi ◽  
Aiko Isobe ◽  
...  
Keyword(s):  
Plant Sterol ◽  
Autosomal Recessive ◽  
Elevated Serum ◽  
Asian Population ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Single Nucleotide ◽  
Compound Heterozygous Variants ◽  
Compound Heterozygous State

AbstractSitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.

scholarly journals Needle muscle biopsy: technique validation and histological and histochemical methods for evaluating canine skeletal muscles

2017 ◽  
Vol 38 (2) ◽  
pp. 765
Author(s):  
Sérgio De Almeida Braga ◽  
Felipe Gomes Ferreira Padilha ◽  
Ana Maria Reis Ferreira
Keyword(s):  
Muscle Biopsy ◽  
Skeletal Muscles ◽  
Muscle Fibers ◽  
Gluteus Medius ◽  
Type I ◽  
Fiber Types ◽  
German Shepherd ◽  
Muscle Sample ◽  
Biopsy Technique ◽  
Histochemical Methods

This study evaluated the needle muscle biopsy technique using a 6G Bergström percutaneous needle combined with histological and histochemical methods to analyze the skeletal muscle of dogs. There are few studies about canine skeletal muscles and a lack of reports in the literature about tissue collection and analysis for canine species. Evaluation of 32 German Shepherd samples collected from the gluteus medius, at a depth of 3 cm, was performed. The choice of gluteus medius and the 3-cm depth provided good quantity fragments with sufficient sizes (3–5 mm), which permitted optimal visualization of muscle fibers. Myosin ATPase, at pH 9.4, 4.6, and 4.3, and SDH reactions revealed that all muscle samples analyzed had fibers in the classic mosaic arrangement, enabling counting and typification. The mean percentages of fibers were 29.95% for type I and 70.05% for type II. On the basis of these results, we concluded that the percutaneous needle biopsy technique for canine skeletal muscles is a safe and easy procedure that obtains fragments of proper sizes, thereby enabling the study of muscle fibers. Standardization of the muscle of choice and the depth of muscle sample collection significantly contributed to this success. This is an important method to evaluate muscle fiber types of dogs and diagnose important diseases affecting the skeletal muscles.

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

Blood ◽  
2003 ◽  
Vol 102 (3) ◽  
pp. 1097-1099 ◽  
Author(s):  
Melanie J. Percy ◽  
Mary Frances McMullin ◽  
Simon N. Jowitt ◽  
Michael Potter ◽  
Marilyn Treacy ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Haplotype Analysis ◽  
Elevated Serum ◽  
Autosomal Recessive Disorder ◽  
European Ancestry ◽  
Von Hippel Lindau ◽  
Central Russia ◽  
Pakistani Origin ◽  
Heterozygous Patient ◽  
Serum Erythropoietin

Abstract The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of families in central Russia. Affected individuals have been reported to be homozygous for an Arg200Trp mutation in the von Hippel–Lindau (VHL) gene. We have screened 78 patients with erythrocytosis and found 8 of Bangladeshi and Pakistani origin to be homozygous for the Arg200Trp mutation and another of English descent to be heterozygous. Of these patients, 5 have elevated serum erythropoietin (Epo) levels, while the other 4 have Epo values in the normal range. The heterozygous patient does not fulfill the Chuvash criterion for homozygosity of the Arg200Trp mutation and consequently may harbor a further, as yet uncharacterized, mutation. This mutation has a wider geographic distribution than originally presumed and haplotype analysis suggests a common origin of the Arg200Trp mutation in the 4 families, but it still remains to be established if it has arisen independently of the Chuvash population.

Muscular Dystrophy

1995 ◽  
Vol 16 (11) ◽  
pp. 437-437
Author(s):  
Alfred J. Spiro
Keyword(s):  
Creatine Kinase ◽  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Elevated Serum ◽  
Dystrophin Gene ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Serum Creatine Kinase ◽  
Muscular Dystrophies ◽  
Clinical Genetic

Several varieties of muscular dystrophy can be distinguished on clinical, genetic, morphologic, and physiologic grounds. The classification includes Duchenne and Becker muscular dystrophies, both X-linked disorders; facioscapulohumeral muscular dystrophy, which is autosomal dominant; and limb-girdle muscular dystrophy, generally autosomal recessive. Duchenne muscular dystrophy (DMD), which occurs in approximately 1 in 3500 live male births, has no recognizable signs or symptoms at birth. However, markedly elevated serum creatine kinase always is demonstrable, even at birth. A molecular diagnosis can be made at any time in the patient's lifetime by demonstrating the defect in the dystrophin gene, the absence of dystrophin in a muscle biopsy, and the characteristic morphologic abnormalities.

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.

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.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

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