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→Diagnostic investigation methods
==== I. Radiological investigation ====
==== I. Radiological investigation ====
'''1. Scanning electron microscopy (SEM)'''
* '''Purpose''':
* '''Purpose''':
*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''' :
* 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)'''
*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 ===