Balamurugan, N (2013) Correlative assessment of Clinical Profile with Laboratory Investigations in Hereditary Muscle Disorders. Masters thesis, Madras Medical College, Chennai.
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Abstract
Myopathies are disorders in which a primary functional or structural impairment of skeletal muscle exists.Muscle disorders are differentiated from disorders involving motor neurons,peripheral nerves or neuromuscular junction, by their characteristic clinical and laboratory features. Therefore, the approach to a patient with a suspected muscle disease is to determine the correct site of the lesion from history and physical examination. Once localized to the muscle, the next step is to identify whether the myopathy is due to a defect in the muscle channel, muscle structure, or a dysfunction in muscle metabolism. Subsequently the cause of the myopathy is to be determined. In general, Muscle disorders are classified into hereditary and acquired disorders. Hereditary muscle disorders have classical age at onset, inheritance pattern, clinical profile, pattern of involvement and distinct laboratory features which helps in the diagnosis. This will help to decide on management and prognostication issues. It is also essential to identify treatable acquired muscular disorders and to differentiate them from hereditary muscle disorders. We undertook this study of hereditary muscle disorders to identify the clinical patterns and laboratory findings in these conditions and study the correlation between them, which will help in recognizing them early for adequate management with rehabilitation 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 the clinical phenotype among various hereditary muscle disorders in our population.A strong correlation between elevated serum CK and 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 investigations like serum CPK,EMG and Muscle biopsy,it is possible to make an accurate early diagnos is in hereditary muscle disorders,prognosticate and manage them appropriately to improve the quality of life in these patients.
| Item Type: | Thesis (Masters) |
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| Uncontrolled Keywords: | Correlative assessment ; Clinical Profile ; Laboratory Investigations ; Hereditary Muscle Disorders. |
| Subjects: | MEDICAL > Neurology |
| Depositing User: | Kambaraman B |
| Date Deposited: | 28 Jun 2017 12:02 |
| Last Modified: | 28 Jun 2017 12:02 |
| URI: | http://repository-tnmgrmu.ac.in/id/eprint/589 |
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