Duchenne Muscular Dystrophy (Pathogenesis)
Absence of dystrophin protein that help keep muscle cells intact
Duchenne Muscular Dystrophy (Clinical Manifestation)
Signs: Abnormality walking, frequent falls, big calvesSymptoms: learning disability, muscle weakness, permanent shortening of muscle
Duchenne Muscular Dystrophy (Differential Diagnosis)
DuchenneBeckerCongenitalEmery-Dreifuss Distal
Duchenne Muscular Dystrophy (Clinical Investigation)
Routine blood testGenetic testingCheck if lactaid dehydrogenase elevated
Duchenne Muscular Dystrophy (Methods of Treatment)
SteroidsBlood Pressure MedicationPhysical Therapy
Duchenne Muscular Dystrophy (What's New)
Eteplirsen 2016 treatmentGene Therapy to replace dystrophin gene
Floppy 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 weightSymptoms: reduced muscle tones, Down syndrome, muscular dystophy
Floppy Baby Syndrome (differential diagnosis)
Cerebral malformationsPrada William syndromeMuscle disease
Floppy Baby Syndrome (clinical investigation)
Neuroimaging: check abnormalityEEG(electroencephalogram): useful for seizures
Floppy Baby Syndrome (methods of treatment)
Recurrent joint dislocationPhysical therapySpeech and language therapy Occupational therapy
Floppy Baby Syndrome (what's new)
Research done to treat condition and rebuild muscle tone
Histiocytosis X (Pathogenesis)
Langerhans Cells (white blood cells) build up in the body
Histiocytosis X (clinical manifestations)
Symptoms: swollen glands, bone fracture, enlarged liverSigns: yellow skin & eyes, skin rash, persistent swelling & pain on bone, stunted growth & excessive urination, shortness of breath & cough
Histiocytosis X (differential diagnosis)
Tuberous sclerosisChronic obstructive pulmonary diseaseHypersensitivity PneumonitisSarcoidosis
Histiocytosis X (clinical investigation)
Complete Blood CountLiver function testBone marrow aspiration & biopsy
Histiocytosis X (methods of treatment)
Smoking CessationLung transplantation CorticosteroidsRadiation therapySurgery
Histiocytosis X (what's new)
Histiocyte Society conducts trials to study various chemotherapeutic regimens in the treatment of LCH
