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]

Colour plates and line drawings are present throughout along with tables of key information. [books.google.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]

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]

• Developmental Delay

  A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013 ). [mendelian.co]

  delay-lung cysts-overgrowth-Wilms tumor syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-osteopenia-ectodermal defect syndrome Global developmental delay-visual [orpha.net]

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

  delay and microcephaly, SLC1A4 related SLC1A4 Developmental delay, GNAQ related GNAQ Developmental delay, KMT2C related KMT2C DI-CMTB DNM2 DI-CMTC YARS DI-CMTD MPZ Dravet syndrome GABRG2 Dravet syndrome SCN2A Dravet syndrome, modifier of SCN9A Dysautonomia [centogene.com]

  Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069 188250 Autosomal recessive TKT 3p21.1 Short stature, developmental delay, and congenital heart defects 617044 606781 Autosomal recessive TLL1 4q32.3 Atrial [mnglabs.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]

• 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]

• Strabismus

  Ataxia Growth delay Cerebellar atrophy Cataract Spasticity Hepatomegaly Progressive proximal muscle weakness Apraxia Impulsivity Adrenal insufficiency CNS hypomyelination Amblyopia Truncal ataxia Lower limb spasticity Generalized seizures Athetosis Strabismus [mendelian.co]

  […] cysts 614561 616663 Autosomal recessive SNRPB 20p13 Cerebrocostomandibular syndrome 117650 182282 Autosomal dominant SNTA1 20q11.21 Long QT syndrome 12 612955 601017 Autosomal dominant SOBP 6q21 Mental retardation, anterior maxillary protrusion, and strabismus [mnglabs.com]

• 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]

• Muscle Cramp

  cramps Respiratory failure Autosomal dominant inheritance Limb muscle weakness Lower limb muscle weakness Pica Supraventricular arrhythmia Congestive heart failure Centrally nucleated skeletal muscle fibers Proximal upper limb amyotrophy Absent muscle [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]

• Calf Hypertrophy

  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]

• Pseudohypertrophy of Calf Muscles

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

• 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]

  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]

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]