Diagnostic Approach Although, per definition, LGMDs are characterized by a common clinical phenotype of predominantly proximal muscle weakness, there is enormous variability in clinical presentation, course and progression of symptoms,…
2Vancouver Hospital, Vancouver, British Columbia, Canada Brachial Plexopathy Brachial Plexus Anatomy The brachial plexus is a complex network of nerve fibers that supply the upper limb (Figure 28.1). The ventral…
Presentations and Diagnostic Tests Myotonia and Paramyotonia Myotonia is the phenomenon of delayed muscle relaxation after contraction. It is experienced by patients as stiffness, cramp, or locking of muscles. Stiffness…
tips and tricks “Listen to the patient, son. He’s trying to tell you his diagnosis.” “Doctors diagnose a patient within the first 18 seconds of speaking with them.” Jerome Groopman:…
science revisited Of those with MG 85% present with ocular symptoms. The likelihood of progression to generalized MG is low if a patient does not generalize within 2 years of…
science revisited pathogenesis Evidence for disease pathogenesis is derived from the animal model of GBS, named experimental allergic neuritis, which is caused by a combination of T-cell-mediated immunity to myelin…
The diabetic and nondiabetic radiculoplexus neuropathies are now commonly included in the spectrum of nonsystemic/localized variants of vasculitis associated with neuropathy. The typical presentation of radiculoplexus neuropathy includes that of…
science revisited The primary source of energy for resting muscle is derived from fatty acid oxidation (FAO). At rest, glucose utilization accounts for 10–15% of total oxygen consumption and both…
science revisited Spinal bulbar muscular atrophy (Kennedy’s disease) is an X-linked inherited disease caused by a trinucleotide expansion in the androgen receptor gene. The abnormal protein forms aggregates that are…
caution! Although muscle disease itself leads to morbidity and even mortality, involvement of other organ systems is the usual ultimate cause of death in most patients. Consequently, when appropriate, involvement…
