Duchenne Muscular Dystrophy (Pathogenesis)Absence of dystrophin protein that help keep muscle cells intactDuchenne Muscular Dystrophy (Clinical Manifestation)Signs: Abnormality walking, frequent falls, big calves
Symptoms: learning disability, muscle weakness, permanent shortening of muscle ONPROJECT-BASED LEARNING SPECIFICALLY FOR YOUFOR ONLY$13. 90/PAGEOrder NowDuchenne Muscular Dystrophy (Differential Diagnosis)Duchenne
Becker
Congenital
Emery-Dreifuss
DistalDuchenne Muscular Dystrophy (Clinical Investigation)Routine blood test
Genetic testing
Check if lactaid dehydrogenase elevatedDuchenne Muscular Dystrophy (Methods of Treatment)Steroids
Blood Pressure Medication
Physical TherapyDuchenne Muscular Dystrophy (What’s New)Eteplirsen 2016 treatment
Gene Therapy to replace dystrophin geneFloppy Baby Syndrome (pathogenesis)Botulinum toxin is released by Clostridium botulinum bacterium. Floppy Baby Syndrome (clinical manifestation)Signs: weak cry, inability to suck or swallow, shallow breathing, inability to hold weight
Symptoms: reduced muscle tones, Down syndrome, muscular dystophyFloppy Baby Syndrome (differential diagnosis)Cerebral malformations
Prada William syndrome
Muscle diseaseFloppy Baby Syndrome (clinical investigation)Neuroimaging: check abnormality
EEG(electroencephalogram): useful for seizuresFloppy Baby Syndrome (methods of treatment)Recurrent joint dislocation
Physical therapy
Speech and language therapy
Occupational therapyFloppy Baby Syndrome (what’s new)Research done to treat condition and rebuild muscle toneHistiocytosis X (Pathogenesis)Langerhans Cells (white blood cells) build up in the bodyHistiocytosis X (clinical manifestations)Symptoms: swollen glands, bone fracture, enlarged liver
Signs: yellow skin & eyes, skin rash, persistent swelling & pain on bone, stunted growth & excessive urination, shortness of breath & coughHistiocytosis X (differential diagnosis)Tuberous sclerosis
Chronic obstructive pulmonary disease
Hypersensitivity Pneumonitis
SarcoidosisHistiocytosis X (clinical investigation)Complete Blood Count
Liver function test
Bone marrow aspiration & biopsyHistiocytosis X (methods of treatment)Smoking Cessation
Lung transplantation
Corticosteroids
Radiation therapy
SurgeryHistiocytosis X (what’s new)Histiocyte Society conducts trials to study various chemotherapeutic regimens in the treatment of LCH
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