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→Diagnostic investigation methods
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===== Scanning electron microscopy (SEM) =====+===== Muscle ultrasound =====+
+
*'''Exome sequencing''' +
==== I. Radiological investigation ====
==== I. Radiological investigation ====
−'''1. Scanning electron microscopy (SEM)'''
* '''Purpose''':
* '''Purpose''':
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*RBC spacing within the muscle tissue – 3D distance mapping
*RBC spacing within the muscle tissue – 3D distance mapping
−* Tissue oxygenation
+*Tissue oxygenation
−'''2. Muscle ultrasound'''
* '''Purpose''' :
* '''Purpose''' :
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* Non-invasive technique for assessment of muscular dystrophies & skeletal muscle disorders in the pediatric population.
* Non-invasive technique for assessment of muscular dystrophies & skeletal muscle disorders in the pediatric population.
−==== Culture tests ====
+==== II. Culture tests ====
* Muscle mass biopsy
* Muscle mass biopsy
−==== Electro-diagnostic techniques====
+==== III. Electro-diagnostic techniques====
'''1. Electromyography (EMG)'''
'''1. Electromyography (EMG)'''
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*Evaluation of deep muscles inherited myopathies
*Evaluation of deep muscles inherited myopathies
−* It also provides information about the best sites of muscle biopsy.
+*It also provides information about the best sites of muscle biopsy.
−==== Hematological & Serological investigation ====
+==== IV. Hematological & Serological investigation ====
#Creatine Kinase (CK) or Creatine Phosphokinase (CPK)–Myopathies
#Creatine Kinase (CK) or Creatine Phosphokinase (CPK)–Myopathies
−#Aldolase – Identifies the weakness of the muscle.
−#Aldolase – Identifies the weakness of muscle.
−#Erythrocyte sedimentation rate (ESR) – Used to measure or assess inflammation of muscles.
#Erythrocyte sedimentation rate (ESR) – Used to measure or assess inflammation of muscles.
−#Antibody evaluation for specific diseases – Ex. Anti-Acetylcholine (Ach) antibodies & Anti-Muscle specific kinase (MUSK) antibodies in Myasthenia Gravis
#Antibody evaluation for specific diseases – Ex. Anti-Acetylcholine (Ach) antibodies & Anti-Muscle specific kinase (MUSK) antibodies in Myasthenia Gravis
−==== Genetics ====
+==== V. Genetics ====
'''Exome sequencing'''
'''Purpose:'''
'''Purpose:'''
−* Identification of genetic variations at base-pair resolution throughout the human genome which targets the proportion of DNA that codes proteins for capturing and sequencing.
+* Identification of genetic variations at base-pair resolution throughout the human genome which targets the proportion of DNA that codes proteins for capturing and sequencing.
=== Pathological conditions ===
=== Pathological conditions ===