Presentation
Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan ( dag1 ), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only [...] [string-db.org]
(PMID: 24556084) von Renesse A … Schuelke M (Journal of medical genetics 2014) 3 4 60 POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. [genecards.org]
Colour plates and line drawings are present throughout along with tables of key information. [books.google.com]
Two necrotic myofibers are present in the center of this image. [emedicine.medscape.com]
Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. [ghr.nlm.nih.gov]
Entire Body System
-
Difficulty Climbing Stairs
climbing stairs EMG: myopathic abnormalities Congenital muscular dystrophy Spinal rigidity Cardiomyopathy Toe walking Motor delay Scapular winging Trophic changes related to pain Dilated cardiomyopathy Slow progression Respiratory insufficiency Kyphosis [mendelian.co]
Symptoms INHERITANCE: Autosomal recessive MUSCLE, SOFT TISSUE: Muscular dystrophy; Neonatal hypotonia; Muscle weakness, proximal; Gower sign; Difficulty climbing stairs; Calf pseudohypertrophy; Dystrophic changes seen on skeletal muscle biopsy NEUROLOGIC [findzebra.com]
Respiratoric
-
Yawning
The main symptoms comprised infrequent hip cramps triggered by flexion, neck cramps triggered by yawning, transient growing pains, calf hypertrophy and mild proximal muscle weakness. [diva-portal.org]
Musculoskeletal
-
Proximal Muscle Weakness
muscle weakness resulting in gait abnormalities and scapular winging. [mendelian.co]
The main symptoms comprised infrequent hip cramps triggered by flexion, neck cramps triggered by yawning, transient growing pains, calf hypertrophy and mild proximal muscle weakness. [diva-portal.org]
muscle weakness, less severe; Muscle biopsy shows myopathic changes; Denervation; Abnormal axons with sprouting and swelling NEUROLOGIC: [Central nervous system]; Delayed walking; Wide-based gait; Spasticity (1 of 4 patients); Extensor plantar responses [findzebra.com]
-
Pseudohypertrophy of Calf Muscles
[…] of calf muscles, mild facial weakness, and borderline intelligence. [monarchinitiative.org]
Neurologic
-
Gowers Sign
The older sister, aged 25 years, had proximal weakness, calf pseudohypertrophy, hyporeflexia, mild facial weakness, and Gowers sign. [findzebra.com]
sign Skeletal muscle atrophy Difficulty walking Sprengel anomaly Intellectual disability Back pain Myotonia Atrioventricular block Arrhythmia Lipodystrophy Myalgia Dyspnea Gait disturbance Increased LDL cholesterol concentration Elbow flexion contracture [mendelian.co]
-
Hyporeflexia
The older sister, aged 25 years, had proximal weakness, calf pseudohypertrophy, hyporeflexia, mild facial weakness, and Gowers sign. [findzebra.com]
[…] blindness Abnormality of color vision Hypokalemia Intestinal pseudo-obstruction Exercise intolerance Abnormality of the eye Abnormal electroretinogram Intellectual disability, mild Vertigo Diplopia Abnormal lip morphology Increased connective tissue Hyporeflexia [mendelian.co]
-
Profound Mental Retardation
mental retardation, and death usually in the first years of life. [ghr.nlm.nih.gov]
Workup
Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. [read.qxmd.com]
Treatment
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Thus, to facilitate fast diagnosis, treatment development, and treatment monitoring, sensitive detection of CDP-ribitol is required. METHODS: An LC-MS method was optimized for CDP-ribitol in human and mice cells and tissues... [read.qxmd.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
The prognosis is very poor. Last update: July 2006 This syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. [findzebra.com]
Etiology
The etiology of many of these disorders and a more pathogenetic classification is evolving. Duchenne and Becker dystrophies are now classified as dystrophinopathies, because they are caused by mutations in the gene for the protein dystrophin. [emedicine.medscape.com]
Epidemiology
A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016; 43(1):163-77. PMID: 26786644 Lemmers, RJ, et al. [invitae.com]
We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. [read.qxmd.com]
Pathophysiology
[…] mortality in these patients since progressive respiratory failure—the former number one cause of death—can be better managed due to advances in respiratory therapy today. w3 w4 Hence, cardiologists should be familiar with the distinctiveness of cardiac pathophysiology [pmj.bmj.com]
Pathophysiology Hypervitaminosis A occurs when the maximum limit for liver stores of retinoids is exceeded. The excess vitamin A enters the circulation causing systemic toxicity. The U.S. [findzebra.com]