Charcot Marie Tooth Syndrome for USMLE скачать в хорошем качестве

Charcot Marie Tooth Syndrome for USMLE

Handwritten tutorial on Charcot Marie Tooth Syndrome for USMLE. Will be discussing pathophysiology, signs and symptoms and treatment. PATHOPHYSIOLOGY Autosomal Dominant Disease as a spectrum of diseases related to myelin sheath made up of schwann cells. There are 8 different types depending on type of mutaiton. The muscles involved is the peroneal and tibial muscles. These muscles will be enlarged. This will typically show up in the USMLE as a patient who has loss of function of these muscles. It affects the ankle area and as they atrophy the anterior and lateral will look much smaller as well. CLINICAL SIGN AND SYMPTOMS Symptoms begin at 2 years such as clumsy, fall and tripping. Four types of conditions known as stork legs because the anterolateral aspect of legs are small. Pes cavus becuase of sprain ankles. Hammer Toes and Claw hand due to contractions on distal limbs. Sensory symptoms are paresthesia becuase low muscle mass compresses sensory nerves. Decrease pain because of increased pain threshold. Decreased proprioception and vibration. Progressive disorder as they go onthroughout their lives. Normal life span and ambulating. There are increase drugs (vincristine) and pregnancy. INVESTIGATIONS Neuroconductive Velocity is lower than sixty percen.t Sural Nerve Viopsy you will see the sural nerves is thickened because of the myelin sheath is affected. Genetic testing can be done antenatelly of the blood. Creatine kinase, EMG and Muscle biopsy is not necessary MANAGEMENT Supportive management with orthotic to stabilize ankle and stiff boots and provide ankle with support. Physiotherapy for stretch exercises and helps decrease frequency of ankle fractures. Surgery for ankle fusion. Avoid some drugs such as vincristine, phenytoin, carbamazepine and anesthetics.