Symptoma

Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

Glycogen Storage Disease X

We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme. [ncbi.nlm.nih.gov]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.com]

Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency Prevalence: Inheritance: - Age of onset: - ICD-10: E74.0 OMIM: 261670 UMLS: C0268149 MeSH: - GARD: 9964 MedDRA: - The documents contained in this web site are presented [orpha.net]

A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis. Neurologic examination and EMG were normal. [pubfacts.com]

  • Forearm Pain

    pain and a 69-year-old with persistently increased serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms. [bio2rdf.org]

  • Infertility

    Systemic Amyloidotic Polyneuropathy, Cardiac or Denmark Type Amyloidotic Polyneuropathy, German-American Type Andermann Syndrome Andersen Cardiodysrhythmic Periodic Paralysis Anderson Disease Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome, Infertility [sequencing.com]

  • Pathologist

    Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016. [books.google.com]

  • Myalgia

    We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme. [ncbi.nlm.nih.gov]

    A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis. Neurologic examination and EMG were normal. [pubfacts.com]

    Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria. [experts.umich.edu]

  • Muscle Cramp

    Conclusion: Although the clinical manifestations of PGAMD mimic McArdle disease with respect to the presence of exertional muscle cramps, rhabdomyolysis, and myoglobinuria, this study shows that cycle exercise responses are strikingly different. [utsouthwestern.influuent.utsystem.edu]

    Clinical features may include hepatomegaly, hypoglycemia, muscle cramps, exercise intolerance, and progressive fatigue and weakness. Preliminary biochemical testing may be helpful in making a diagnosis. [sjhbangorlab.testcatalog.org]

    He reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood. [bio2rdf.org]

    This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals. [ghr.nlm.nih.gov]

    1 (PFK-1), Tauri's disease Type VII: Most prevalent in Ashkenazi Jews and Japanese Like Type V, but also with hemolytic anemia due to PFK-1 McArdle’s Disease enzyme Muscle Glycogen Phosphorylase Limited ability to perform strenuous exercise, muscle cramping [quia.com]

  • Muscle Contracture

    Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. [ncbi.nlm.nih.gov]

    Muscle contractures do not occur after ischemic exercise. Numerous episodes of supraventricular tachycardia occurred in an infant with Thomson's disease. [euroformhealthcare.biz]

    Prolonged muscle spasm (muscle contracture) is not uncommon and can lead to RM. [ojrd.biomedcentral.com]

  • Suggestibility

    Muscle biopsy revealed subsarcolemmal collections suggestive of tubular aggregates. Phosphoglycerate mutase activity was 8% of the reference value. [ncbi.nlm.nih.gov]

    Gomori-trichome and NADH showed subsarcolemmal depositions (0.01% of the fibres) suggesting tubular aggregates (Fig. 1 ). PGAM activity in muscle homogenate [ 4 ] was moderately reduced (141 U/g wet weight, normal 332 88). [link.springer.com]

    There was a normal increase in serum lactate in the forearm ischemic exercise test, suggesting a discrepancy in glycogen breakdown impairment during anaerobic and aerobic exercise in PHK deficiency that may result from different activation pathways for [bio2rdf.org]

    Frequently, symptoms suggesting polymyositis or late-onset muscular dystrophy cause confusion in the initial clinical diagnosis. Three types of debrancher deficiency syndrome have been identified: infantile, childhood, and adult. [euroformhealthcare.biz]

  • Paresis

    Androgen (DHEA) Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II Deficiency of Factor XIII, A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis [sequencing.com]

    Fibrosis of Extraocular Muscles Duane Retraction Syndrome Duane Radial Ray Syndrome Mobius Syndrome Brown Syndrome Marcus Gunn Syndrome Strabismus Congenital Horizontal Gaze Palsy Horizontal Gaze Palsy With Progressive Scoliosis Facial Palsy Facial Paresis [mitoaction.org]

  • Cerebellar Sign

    Over the subsequent 8 years, he had slowly progressive weakness of the pelvic girdle muscles without pyramidal or cerebellar signs. [bio2rdf.org]

Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. [centogene.com]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.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]

Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms [msdmanuals.com]

Página 414 - Report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel II). ‎ [books.google.es]

Prognosis is good; adult patients have normal stature and minimal hepatomegaly. [ommbid.mhmedical.com]

Despite any of these interventions, the prognosis is guarded for patients with all of the glycogenoses. [euroformhealthcare.biz]

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 and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms [msdmanuals.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including La- fora disease) due to different etiologies. [archive.org]

On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including Lafora disease) due to different etiologies. [scienceopen.com]

Houston Recruiting NCT02023866 Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease Genetically diagnosed mitochondrial disease Raptor Pharma Completed NCT02003170 Etiology [mitoaction.org]

The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. [mendelian.co]

Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

Data from combined studies has involved 2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological [centogene.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]

Understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism. [neuromuscular.dk]

The syndrome of rhabdomyolysis: pathophysiology and diagnosis. Eur J Intern Med. 2007;18(2):90–100. PubMed Google Scholar Jhawar M, George P, Pawar B. [ojrd.biomedcentral.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]

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

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

A high-protein diet may also be effective in preventing hypoglycemia as gluconeogenesis is intact in these patients. Currently, there is no effective treatment for the progressive myopathy or cardiomyopathy. [ommbid.mhmedical.com]