Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.de]

Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. [orpha.net]

Clinical Presentation  Hepatic Presentation  Hepatomegaly, short stature, hypoglycemia, and hyperlipidemia predominate in children, may be indistinguishable from GSD I.  Splenomegaly can be present.  kidneys are not enlarged and renal function is [slideshare.net]

The clinical presentation is that of progressive/relapsing and remitting muscle weakness present for more than 2 months, symmetrical proximal and distal extremity weakness and hyporeflexia. [neuroweb.us]

Additionally, even though most myopathies present with proximal shoulder and girdle weaknesses, some forms may present with distal weakness and, thereby, mimic neuropathies. [mayomedicallaboratories.com]

• Recurrent Infection

  infection syndrome, see autosomal dominant hyper-IgE syndrome autosomal dominant hyper-IgE syndrome autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, see autosomal dominant hyper-IgE syndrome autosomal dominant hypocalcemia autosomal [mygenomics.com]

  Triosephosphate isomerase deficiency It usually presents before 2 years of age with hemolytic anemia, recurrent infections, slowly progressive weakness of face and proximal limbs, and CNS dysfunction (including mental retardation, dystonia, cerebellar [sites.google.com]

• Oral Ulcers

  […] and papules; higher risk of oral ulcerations and arthritis. [sites.google.com]

• Hepatomegaly

  In the liver, accumulation of polyglucosan bodies causes hepatomegaly. [knowledge.statpearls.com]

  Hepatomegaly decreases with age and usually disappears around puberty. [slideshare.net]

  PHKG2 gene changes are particularly associated with recurrent hypoglycemia, hepatomegaly and rarely liver fibrosis. [quizlet.com]

  […] microscopy description Increased cytoplasmic glycogen, lipid droplets, glycogenated nuclei Type Ia Definition / general Rare; due to absence of glucose-6-phosphatase, required for gluconeogenesis and glycogenolysis Symptoms: hypoglycemia and marked hepatomegaly [pathologyoutlines.com]

  Hepatomegaly, macroglossia, cardiomegaly and early respiratory muscle involvement are common in infantile and childhood varieties. Infantile form is fatal before 2 years of age. [annalsofneurosciences.org]

• Sweating

  Electrophysiologic testing is nonspecific: Specialized autonomic testing (thermoregulatory sweat tests and autonomic reflex testing) shows sudomotor sweating abnormalities often with specific spinal cord level identified. [ncbi.nlm.nih.gov]

  HSN IV (Congenital sensory neuropathy with loss of sweating) 2. Metabolic neuropathies (biochemical defect identified) 1. Amyloid neuropathy 2. Lipoprotein disorders and peripheral neuropathy a. Cerebral lipoidoses b. [hickoryneurology.net]

  […] anomalies (MCA) Cockayne syndrome Multiple congenital anomalies (MCA) Coffin-Lowry syndrome Multiple congenital anomalies (MCA) Coffin-Siris syndrome Multiple congenital anomalies (MCA) Cohen syndrome Multiple congenital anomalies (MCA) Cold-induced sweating [genomediagnosticsnijmegen.nl]

  Autonomic features palpitations, constipation, diarrhea, orthostatic intolerance, urinary retention, incontinence, ED, sweating abnormalities (hypo or hyperhidrosis), early satiety, blurred vision, dry eyes, dry mouth. [sites.google.com]

  610687 601443 Autosomal recessive CFTR 7q31.2 {Pancreatitis, idiopathic} 167800 602421 Autosomal dominant CFTR 7q31.2 Congenital bilateral absence of vas deferens 277180 602421 Autosomal recessive CFTR 7q31.2 {Bronchiectasis with or without elevated sweat [mnglabs.com]

• Prolapse

  Myotonic dystrophy, mitral valve prolapse, and cerebral embolism Stroke 1982; 13: 93-4. [39] Liang WC, You CY, Liu CY, et al. [benthamopen.com]

• Convulsions

  Signs usually appear in late infancy when late night feedings stop Glycogen Synthase Deficiency Sypmtoms Infants may show early-morning (before breakfast) drowsiness, appearance of looking pale, vomiting and fatigue, and sometimes convulsions Mild growth [quizlet.com]

  Neurological Epilepsy, Idiopathic Neurological Epilepsy, myoclonic Neurological Episodic ataxia Neurological Episodic kinesigenic dyskinesia Neurological Episodic pain syndrome Neurological Erythermalgia, primary or idiopathic Neurological Familial infantile convulsions [genomediagnosticsnijmegen.nl]

  Gout, PRPS-related 300661 311850 X-linked recessive PRPS1 Xq22.3 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 311850 X-linked recessive PRRT2 16p11.2 Seizures, benign familial infantile, 2 605751 614386 Autosomal dominant PRRT2 16p11.2 Convulsions [mnglabs.com]

• Kidney Failure

  Molecule UDP-glucose uridine diphosphate glucose Small Molecule UTP uridine triphosphate Pathway Gene Annotations Disease Annotations Associated with Genes in the glycogen biosynthetic pathway abdominal aortic aneurysm Gys1 Aberrant Crypt Foci Gsk3b acute kidney [rgd.mcw.edu]

Clinical Testing and Workup Direct examination of tissue by a pathologist (electron and light microscopy) can help reach a definitive diagnosis. [rarediseases.org]

Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped [sites.google.com]

• Enlargement of the Liver

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter [checkrare.com]

• Hypoglycemia

  hypoglycemia and suppress secondary metabolic decompensation. [slideshare.net]

  PHKG2 gene changes are particularly associated with recurrent hypoglycemia, hepatomegaly and rarely liver fibrosis. [quizlet.com]

  Key overall goals are to treat or avoid hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Hypoglycemia is avoided by consuming starch and an optimal, physically modified form, Glycosade, is now commercially available. [knowledge.statpearls.com]

  902 ) Microscopic (histologic) description Increased hepatocellular glycogen Electron microscopy description Intralysosomal glycogen Type III Definition / general Deficiency of debrancher enzyme amylo-1,6-glucosidase due to various mutations causes hypoglycemia [pathologyoutlines.com]

  Gck hyperinsulinism Gck hypertension Gck, Gsk3b hypoglycemia Gck, Ppp1r3a Immunodeficiency 23 Pgm3 Insulin Resistance Gck, Gys1, Ppp1r3a Intestinal Neoplasms Gsk3b Job's syndrome Pgm3 Left Ventricular Hypertrophy Gsk3a Liver Injury Gck Liver Reperfusion [rgd.mcw.edu]

The selection of the most appropriate form of post surgical treatment for most tumors is predicated on the precise identification of the tumor cells. [books.google.de]

Dietary Treatment  The goal of treatment is, as far as possible, to prevent hypoglycemia, thus limiting secondary metabolic derangements.  Initially, treatment consisted of frequent carbohydrate- enriched meals during day and night.  In 1974, continuous [slideshare.net]

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]

Follow-up, Complications, Prognosis,  Proximal and distal renal tubular as well as glomerular functions are at risk.  Single or multiple liver adenomas may develop in the second or third decade.  Osteopenia.  Anemia.  Polycystic ovaries (PCOs).  [slideshare.net]

Prognosis [ edit ] A 2009 review noted that muscle weakness usually begins after age 20 and after 20–30 years, the person usually requires a wheel chair for mobility. [en.wikipedia.org]

The course of AMSAN is typically fulminant and the prognosis is generally poor. Median time to regain ability to walk 5 meters with assistance is 1 month. Iv immunoglobulin are less effective than in GBS. [neuroweb.us]

Treatment and Prognosis: Fewer than 20% of patients survive beyond 3 years. Response to corticosteroids is variable, but some do respond. Most require a 2nd line cytotoxic agent. BMT for refractory cases. [sites.google.com]

Etiology The etiology of GSD is best understood by following the metabolic events leading to the synthesis (glycogenesis) and degradation of glycogen (glycogenolysis). [knowledge.statpearls.com]

Abnormality of metabolism/homeostasis Elevated circulating creatine kinase concentration Abnormality of the musculoskeletal system Difficulty walking Distal muscle weakness Muscle fiber inclusion bodies Abnormality of the nervous system Muscle fibrillation Etiology [ncbi.nlm.nih.gov]

^ Carrillo N, Malicdan MC, Huizing M (2018) GNE myopathy: Etiology, diagnosis, and therapeutic challenges. Neurotherapeutics doi: 10.1007/s13311-018-0671-y ^ "Inclusion body myopathy 3". NIH Genetic and Rare Diseases Information Center. [en.wikipedia.org]

Pathogenesis: Unknown etiology. Eosinophilia may be the result of effect of T-cell clones. Oligoclonal expansion of T cells within the muscle in PM is noted. [sites.google.com]

[…] related nemaline myopathy and response to acetylcholinesterase inhibitors Identification of a novel form of recessive SCN4A-related congenital myopathy Other neuromuscular diseases and basic research Prevalence of HSMNR in the Czech Republic Reviewing the epidemiology [institut-myologie.org]

Epidemiology The overall incidence of GSD (all forms) in Europe, Canada, and the United States is estimated to be between 1 in 20,000 and 1 in 40,000. [knowledge.statpearls.com]

Epidemiology Frequency International Glycogen-storage disease type IV represents an uncommon form of glycogen-storage disease. [emedicine.medscape.com]

Chinnery PF, Johnson MA, Wardell TM et al. (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48: 188–193 PubMed Google Scholar 18. [link.springer.com]

It appears that the general spectrum of myopathies described in the world literature is also seen in India, although the prevalence is difficult to ascertain, as there is very little published epidemiological data. [annalsofneurosciences.org]

Pathophysiology Figure 1 summarizes the pathophysiology for each GSD, along with organ(s) affected, as well as the potential signs. In general, GSDs primarily affect the liver, skeletal muscle, or both. [knowledge.statpearls.com]

Pathophysiology Deficient glycogen-branching enzyme activity results in the formation of abnormal glycogen with long, unbranched outer chains and decreased solubility. [emedicine.medscape.com]

The pathophysiology is still unclear. Cardiac involvement may occur. [en.wikipedia.org]

The following algorithms are available in Special Instructions: -Inherited Motor Neuron Disease Testing Algorithm -Neuromuscular Myopathy Testing Algorithm Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they [mayomedicallaboratories.com]

MELAS and L-arginine therapy: pathophysiology of stroke-like episodes Ann N Y Acad Sci 2010; 1201: 104-. [69] Iizuka T, Sakai F, Endo M, Suzuki N. Response to sumatriptan in headache of MELAS syndrome Neurology 2003; 61: 577-8. [70] Santa KM. [benthamopen.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

Prevention of secondary complications: Gait aids to prevent falls and urologic management to prevent urosepsis. Surveillance: Periodic assessment of bladder function, gait, sensation in the distal lower extremities, and cognition. [ncbi.nlm.nih.gov]

In skeletal muscle, e.g., GSD 5, this can prevent proper muscle functioning, exercise intolerance and rhabdomyolysis. [knowledge.statpearls.com]

[…] to reduce or prevent further deterioration of renal function. [slideshare.net]