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 [...] [a.k.a. [string-db.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]

(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]

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]

• Weakness

  Torticollis Neck muscle weakness Axial muscle weakness Muscle fiber necrosis Handgrip myotonia Dysphagia Heterogeneous Adult onset Late-onset distal muscle weakness Foot dorsiflexor weakness Functional respiratory abnormality Facial hypotonia Absent [mendelian.co]

  weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. [monarchinitiative.org]

  Auerbachstrasse 110, Stuttgart 70376, Germany; ali.yilmaz{at}rbk.de Statistics from Altmetric.com Muscular dystrophy; cardiomyopathy The term muscular dystrophy (MD) comprises various neuromuscular disorders that are characterised by progressive muscle weakness [pmj.bmj.com]

  […] cry, poor feeding, and facial diplegia or weakness. [findzebra.com]

  Here, we apply targeted whole exome sequencing (WES) to the largest ever cohort of undiagnosed patients with limbgirdle weakness. [kundoc.com]

• Disability

  OBJECTIVE To identify the cause of CMD with secondary merosin deficiency, hypomyelination and intellectual disability in two siblings from a… CONTINUE READING [semanticscholar.org]

  […] syndrome Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome Genetic multiple congenital anomalies without [orpha.net]

  (PMID: 23519211) Jae LT … Brummelkamp TR (Science (New York, N.Y.) 2013) 2 3 4 60 POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. [genecards.org]

  Mental retardation (MR), better known as intellectual disability (ID) - is a lifelong disability that presents mostly in infancy or early childhood. It is characterized by below-average intelligence or mental ability. [centogene.com]

• Pain

  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]

  Dilated cardiomyopathy Slow progression Respiratory insufficiency Kyphosis Gowers sign Skeletal muscle atrophy Difficulty walking Sprengel anomaly Intellectual disability Back pain Myotonia Atrioventricular block Arrhythmia Lipodystrophy Myalgia Dyspnea [mendelian.co]

  […] phosphorylation protein O-linked glycosylation protein O-linked glycosylation brain development learning or memory integral component of membrane phosphotransferase activity, alcohol group as acceptor carbohydrate kinase activity sensory perception of pain [atlasgeneticsoncology.org]

  Associated with Gastrointestinal Diseases E-2785 160 Counseling Children with Neurologic Disorders and Their Families E-2823 161 Approaches to Personalized Medicine in Pediatric Neurology E-2831 162 Pediatric Neurorehabilitation Medicine E-2839 163 Pain [books.google.com]

• 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]

• Anorexia

  Mitochondrial BCS1L 2q35 GRACILE syndrome 603358 603647 BDNF 11p14.1 {Obsessive-compulsive disorder, protection against} 164230 113505 Autosomal dominant BDNF 11p14.1 Central hypoventilation syndrome, congenital 209880 113505 Autosomal dominant BDNF 11p14.1 {Anorexia [mnglabs.com]

• 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]

• Diarrhea

  Abnormality of the eye Abnormal electroretinogram Intellectual disability, mild Vertigo Diplopia Abnormal lip morphology Increased connective tissue Hyporeflexia of lower limbs Permanent atrial fibrillation Tics Intellectual disability, severe Blindness Diarrhea [mendelian.co]

  […] involvement Genetic infertility Genetic inflammatory or rheumatoid-like osteoarthropathy Genetic interstitial lung disease Genetic intestinal disease Genetic intestinal disease due to fat malabsorption Genetic intestinal polyposis Genetic intractable diarrhea [orpha.net]

• Muscle Weakness

  […] visuospatial constructive cognition Triceps weakness Limited knee flexion/extension Limited elbow flexion Difficulty running Pneumonia Torticollis Neck muscle weakness Axial muscle weakness Muscle fiber necrosis Handgrip myotonia Dysphagia Heterogeneous [mendelian.co]

  weakness and wasting, DMD and BMD are characterised by cardiac muscle involvement. [pmj.bmj.com]

  Definition An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. [uniprot.org]

  weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. [monarchinitiative.org]

• Proximal Muscle Weakness

  Limb muscle weakness Lower limb muscle weakness Pica Supraventricular arrhythmia Congestive heart failure Centrally nucleated skeletal muscle fibers Proximal upper limb amyotrophy Absent muscle fiber emerin Decreased cervical spine flexion due to contractures [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]

  Proximal muscles showed a less severe weakness and wasting. The condition was present at birth and showed little progression. [findzebra.com]

• Muscle Cramp

  […] hypertrophy Joint stiffness Obesity Neonatal hypotonia Pectus excavatum Facial palsy Proximal muscle weakness in lower limbs Feeding difficulties Proximal lower limb amyotrophy Pain Hyporeflexia Muscle cramps Respiratory failure Autosomal dominant inheritance [mendelian.co]

  Symptoms Endocrine: Hypothyroidism Skin: Coarse, dry skin; Puffy, non-pitting swelling of face, hands and limbs; Decreased sweating Neuro: Paresthesias; Decreased memory GI: Constipation Muscle: Muscle cramps Misc: Weakness; Fatigue; Lethargy; Cold intolerance [findzebra.com]

  cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595 [mnglabs.com]

• Pseudohypertrophy of Calf Muscles

  […] weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. [monarchinitiative.org]

• Encephalopathy

  […] epileptic encephalopathy type 21 NECAP1 Early infantile epileptic encephalopathy type 23 DOCK7 Early infantile epileptic encephalopathy type 24 HCN1 Early infantile epileptic encephalopathy type 25 SLC13A5 Early infantile epileptic encephalopathy type [centogene.com]

  Metabolic Disorders of the White Matter E-1690 100 Acquired Disorders Affecting the White Matter E-1725 101 Disorders of Consciousness in Children E-1741 102 Traumatic Brain Injury in Children E-1774 103 Abusive Head Trauma E-1821 104 HypoxicIschemic Encephalopathy [books.google.com]

  If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. [findzebra.com]

  Autosomal Recessive 1A Developmental Delay, Microcephaly and Hypomyelination Dihydrolipoamide dehydrogenase deficiency Dihyropyrimidine dehydrogenase deficiency Dyskeratosis Congenita, Autosomal Recessive 5 Ehlers-Danos Syndrome, Type VIIC Ethylmalonic encephalopathy [genpathdiagnostics.com]

• Paresis

  […] neuropathy; Difficulty walking; Difficulty with hand grip; Tremor (in some patients); Hyporeflexia; Vocal cord paresis; Intact sensation; Normal motor nerve conduction velocity VOICE: Hoarse voice due to vocal cord paresis MISCELLANEOUS: Onset in second [findzebra.com]

  Episodic ataxia type 2 CACNA1A Episodic ataxia type 5 CACNB4 Episodic ataxia type 6 SLC1A3 Episodic pain syndrome type 2, familial SCN10A Episodic pain syndrome type 3, familial SCN11A Erythermalgia, primary SCN9A Ethylmalonic encephalopathy ETHE1 Facial paresis [centogene.com]

  Autosomal dominant GCK 7p13 Diabetes mellitus, noninsulin-dependent, late onset 125853 138079 Autosomal dominant GCSH 16q23.2 Glycine encephalopathy 605899 238330 Autosomal recessive GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [mnglabs.com]

• Gowers Sign

  The older sister, aged 25 years, had proximal weakness, calf pseudohypertrophy, hyporeflexia, mild facial weakness, and Gowers sign. [findzebra.com]

  […] 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 Gowers [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]

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]

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]

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]

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]

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]

[…] 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]

The pathophysiological role of calpain-3 is not exactly known. Immunohistochemical (IHC) analysis of calpainopathy is still not possible as there is no anti-calpain-3 antibody available that is compatible for IHC on muscle biopsy cryosections. [neurologyindia.com]