FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2807887925> ?p ?o ?g. }

• W2807887925 abstract "Myopathies are disorders in which a primary functional orstructural impairment of skeletal muscle exists.Muscle disorders aredifferentiated from disorders involving motor neurons,peripheral nervesor neuromuscular junction, by their characteristic clinical and laboratoryfeatures. Therefore, the approach to a patient with a suspected muscledisease is to determine the correct site of the lesion from history andphysical examination. Once localized to the muscle, the next step is toidentify whether the myopathy is due to a defect in the muscle channel,muscle structure, or a dysfunction in muscle metabolism. Subsequentlythe cause of the myopathy is to be determined.In general, Muscle disorders are classified into hereditary andacquired disorders. Hereditary muscle disorders have classical age atonset, inheritance pattern, clinical profile, pattern of involvement anddistinct laboratory features which helps in the diagnosis. This will help todecide on management and prognostication issues. It is also essential toidentify treatable acquired muscular disorders and to differentiate themfrom hereditary muscle disorders. We undertook this study of hereditarymuscle disorders to identify the clinical patterns and laboratory findingsin these conditions and study the correlation between them, which willhelp in recognizing them early for adequate management withrehabilitation measures and for prognostication.In conclusion, the following observations were made from our study,• Hereditary muscle disorders are common among males than in females.• Most of the patients with hereditary muscle disorders were in the age group of 10 to 20 years(2nd decade).• Earliest age of onset in our study was 2 years (DMD).• No patients with hereditary muscle disorders were found beyond 5th decade in our study.• Most common hereditary muscle disorders was LGMD(57%) followed by FSHD(11.4%) and BMD(11.4%).• Most common pattern of involvement was proximal limb girdle pattern with all DMD,BMD,LGMD,Congenital myopathy patients in that group.• Polyhill s ign and scapular winging were seen in all our patients with FSHD,which is a characteristic finding in this disease.Specific clinical signs were less commonly noted in our patients with LGMD.• Serum CK elevation is maximum (>25 times normal) in DMD,BMD,LGMD(AR inheritance) and minimum(1-2 times normal) in FSHD and the CK elevation correlates well with theclinical phenotype among various hereditary muscle disorders in our population.A strong correlation between elevated serum CKand clinical diagnosis of hereditary muscle disorders was noted in our study.• High degree of concordance of clinical diagnosis of hereditary muscle disorders with EMG was observed in our study. • High degree of concordance of clinical diagnosis of hereditary muscle disorders with muscle biopsy was observed in our study.Hence, a structured clinical approach focusing on pattern of muscle involvement and on specific clinical signs along with investigationslike serum CPK,EMG and Muscle biopsy,it is possible to make an accurate early diagnos is in hereditary muscle disorders,prognosticateand manage them appropriately to improve the quality of life in these patients." @default.
• W2807887925 created "2018-06-21" @default.
• W2807887925 creator A5087359458 @default.
• W2807887925 date "2013-08-01" @default.
• W2807887925 modified "2023-09-27" @default.
• W2807887925 title "Correlative assessment of Clinical Profile with Laboratory Investigations in Hereditary Muscle Disorders." @default.
• W2807887925 cites W2008660959 @default.
• W2807887925 cites W2029317663 @default.
• W2807887925 cites W2057060993 @default.
• W2807887925 cites W2073537753 @default.
• W2807887925 cites W2122245576 @default.
• W2807887925 cites W2315952876 @default.
• W2807887925 cites W2316406561 @default.
• W2807887925 cites W2396440084 @default.
• W2807887925 cites W2075032011 @default.
• W2807887925 hasPublicationYear "2013" @default.
• W2807887925 type Work @default.
• W2807887925 sameAs 2807887925 @default.
• W2807887925 citedByCount "0" @default.
• W2807887925 crossrefType "dissertation" @default.
• W2807887925 hasAuthorship W2807887925A5087359458 @default.
• W2807887925 hasConcept C126322002 @default.
• W2807887925 hasConcept C142724271 @default.
• W2807887925 hasConcept C2777300911 @default.
• W2807887925 hasConcept C2778261627 @default.
• W2807887925 hasConcept C2779134260 @default.
• W2807887925 hasConcept C2779959927 @default.
• W2807887925 hasConcept C2909079248 @default.
• W2807887925 hasConcept C2909765735 @default.
• W2807887925 hasConcept C71924100 @default.
• W2807887925 hasConceptScore W2807887925C126322002 @default.
• W2807887925 hasConceptScore W2807887925C142724271 @default.
• W2807887925 hasConceptScore W2807887925C2777300911 @default.
• W2807887925 hasConceptScore W2807887925C2778261627 @default.
• W2807887925 hasConceptScore W2807887925C2779134260 @default.
• W2807887925 hasConceptScore W2807887925C2779959927 @default.
• W2807887925 hasConceptScore W2807887925C2909079248 @default.
• W2807887925 hasConceptScore W2807887925C2909765735 @default.
• W2807887925 hasConceptScore W2807887925C71924100 @default.
• W2807887925 hasLocation W28078879251 @default.
• W2807887925 hasOpenAccess W2807887925 @default.
• W2807887925 hasPrimaryLocation W28078879251 @default.
• W2807887925 hasRelatedWork W1088720642 @default.
• W2807887925 hasRelatedWork W1504371987 @default.
• W2807887925 hasRelatedWork W17303572 @default.
• W2807887925 hasRelatedWork W1987015473 @default.
• W2807887925 hasRelatedWork W2005083231 @default.
• W2807887925 hasRelatedWork W2022968414 @default.
• W2807887925 hasRelatedWork W2039433998 @default.
• W2807887925 hasRelatedWork W2041674275 @default.
• W2807887925 hasRelatedWork W2416557506 @default.
• W2807887925 hasRelatedWork W2472535155 @default.
• W2807887925 hasRelatedWork W2577987586 @default.
• W2807887925 hasRelatedWork W2751868548 @default.
• W2807887925 hasRelatedWork W2755268893 @default.
• W2807887925 hasRelatedWork W2765382183 @default.
• W2807887925 hasRelatedWork W2770903405 @default.
• W2807887925 hasRelatedWork W2792780427 @default.
• W2807887925 hasRelatedWork W3028871222 @default.
• W2807887925 hasRelatedWork W3032227674 @default.
• W2807887925 hasRelatedWork W3182119880 @default.
• W2807887925 hasRelatedWork W3144990330 @default.
• W2807887925 isParatext "false" @default.
• W2807887925 isRetracted "false" @default.
• W2807887925 magId "2807887925" @default.
• W2807887925 workType "dissertation" @default.