glycogen has been researched along with Deafness* in 4 studies
4 other study(ies) available for glycogen and Deafness
| Article | Year |
|---|---|
Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.
We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded. Topics: 1,4-alpha-Glucan Branching Enzyme; Abnormalities, Multiple; Arthrogryposis; Consanguinity; Deafness; Family Health; Fatal Outcome; Female; Genes, Recessive; Glycogen; Hernia, Inguinal; Humans; Infant; Infant, Newborn; Male; Pedigree; Phosphorylase a; Polymorphism, Single Nucleotide | 2005 |
DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease.
A 30 year old man with DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease is reported. Echocardiographic study revealed a marked symmetric left ventricular hypertrophy. Histology of the endomyocardial biopsy specimen from the right ventricle showed severe glycogen deposition in the myocytes. This case may indicate that DIDMOAD syndrome is a hereditary systemic disease affecting multiple organs, including the myocardium. Topics: Adult; Cardiomyopathies; Deafness; Diabetes Complications; Diabetes Insipidus; Diabetes Mellitus; Endocardium; Glycogen; Humans; Male; Myocardium; Optic Atrophy; Syndrome | 1988 |
Keratitis, ichthyosis, and deafness syndrome with glycogen storage.
Electron microscopy performed in a young girl suffering from keratitis, ichthyosis, and deafness syndrome showed pathologic storage of glycogen in various types of tissues. This finding may be interpreted as evidence of an underlying inborn error of metabolism. Topics: Child; Cytoplasm; Deafness; Female; Glycogen; Humans; Ichthyosis; Keratitis; Mitochondria; Skin; Staining and Labeling; Syndrome | 1985 |
Neurological manifestations of xeroderma pigmentosum in two siblings.
Topics: Adenosine Triphosphatases; Adult; Axons; Biopsy; Blood Group Antigens; Cell Count; Chorea; Deafness; Dementia; Electromyography; Female; Glycogen; Histocytochemistry; Humans; Male; Microscopy, Electron; Motor Neurons; Muscles; Neural Conduction; Neurologic Manifestations; Neurons, Afferent; Peripheral Nerves; Xeroderma Pigmentosum | 1974 |