[…] acidemia Congenital bronchobiliary fistula Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital lobar emphysema Congenital muscular dystrophy with intellectual disability and severe epilepsy [se-atlas.de]

Lafora disease, better known as a progressive myoclonus epilepsy, is also a polyglucosan storage disease. • The differential diagnosis of glycogenoses with exercise intolerance, cramps, and myoglobinuria includes other metabolic myopathies, especially [medlink.com]

[…] sialic acid storage disease 4 Freeman-Sheldon syndrome 4 Friedreich ataxia 4 Frontotemporal dementia 4 Fucosidosis 4 GM1 gangliosidosis 4 Galactosialidosis 4 Gastric cancer, familial 4 Gaucher disease, type 1 4 Gaucher disease, type 3 4 Generalized epilepsy [research.cchmc.org]

Form CLN6 Disease, Variant Late-Infantile Batten Disease – Variant Late-Infantile Form CLN7 Disease, Variant Late-Infantile Batten Disease – Variant Late-Infantile Form CLN8 Disease, Variant Late Infantile Batten Disease – Variant Late Infantile Form / Epilepsy [climb.org.uk]

[…] dyskinesia syndrome Generalized epilepsy with febrile seizures-plus Generalized epimerase deficiency galactosemia Generalized eruptive histiocytoma Generalized eruptive histiocytosis Generalized eruptive keratoacanthoma Generalized eruptive keratoacanthomas [orpha.net]

Activation of adenylate cyclase leads to a large increase in the formation of cAMP which then binds to, and activates the enzyme, cAMP-dependent protein kinase (PKA: see Figure below). [themedicalbiochemistrypage.org]

E-mail: [email protected] 96 Progress and problems in muscle glycogenoses Epinephrine Exercise I cAMP (Ca Protein Kinase I Phosphorylase b Kinase -I 1 4 VIII Glycogen -s. Phosphorylase a 4— Phosphorylase b V \ [archive.org]

Metabolic and mitochondrial myopathies; Sporadic inclusion body myositis; Toxic myopathies; Idiopathic Inflammatory myopathies; Approach to muscle disease. [books.google.com]

Metabolic myopathies Tobon A Continuum (Minneap Minn), 2013, 19, 6, p. 1571-1597 Investigation of metabolic myopathies Mastaglia FL, Hilton-Jones D, Taylor RW, et al. [myobase.org]

all genetic causes of recurrent myoglobinuria. • The differential diagnosis of glycogenoses with weakness includes the muscular dystrophies, congenital myopathies, and other metabolic myopathies. • Depending on the tissue specificity of the isozyme [medlink.com]

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. [195.83.227.65]

Myopathic Presentation  Clinical myopathy may not be apparent in infants or children, although some show hypotonia and delayed motor milestones.  Myopathy often appears in adult life, long after liver symptoms have subsided.  Adult-onset myopathies [slideshare.net]

Search for a rare disease Glycogen storage disease due to muscle beta-enolase deficiency Disease definition Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia [orpha.net]

II deficiency Most common cause of recurrent myoglobinuria Myoglobinuria occurs after moderate exercise or prolonged fasting Mitochondrial disorders Complex III, or I or IV Premature fatigue or breathlessness after normal activities of daily living Myalgias [neuromuscular.wustl.edu]

RM and myalgia may be the dominating symptom in a few cases of LGMD2I [ 82 ]. [ojrd.biomedcentral.com]

Lafora disease, better known as a progressive myoclonus epilepsy, is also a polyglucosan storage disease. • The differential diagnosis of glycogenoses with exercise intolerance, cramps, and myoglobinuria includes other metabolic myopathies, especially [medlink.com]

Lafora Disease  Lafora disease (myoclonus epilepsy with Lafora bodies) is characterised by seizures, myoclonus, and dementia. [slideshare.net]

Some experience episodes of confusion, lack of energy (lethargy), headaches, muscle twitches (myoclonus), or involuntary irregular eye movements, particularly before meals. [smpdb.ca]

Goossens-Devriendt syndrome Gordon-Holmes syndrome Gordon hyperkalemia-hypertension syndrome Gordon syndrome Gorham disease Gorham-Stout disease Gorham syndrome Gorlin-Chaudhry-Moss syndrome Gorlin-Goltz syndrome Gorlin syndrome GOSHS GOSR2-related progressive myoclonus [orpha.net]

Role in phosphorylation/dephosphorylation reactions controlling glycogen metabolism Mutation: Leads to hyperphosphorylated glycogen and polyglucosan formation NHLRC1 protein: E3 ubiquitin ligase Clinical Onset: Adolescence Cortical: Seizures; Myoclonus [neuromuscular.wustl.edu]