Clinical Vignette A 55-year-old female with a recent history of interstitial lung disease reported weakness in her arms and legs. Recently she had noticed that she could not climb the 10 steps up from her basement. She had also developed…
In this chapter, we discuss a group of hereditary, often progressive, muscle disorders. These can be categorized as channelopathies, metabolic and mitochondrial myopathies, muscular dystrophies, and congenital myopathies ( Table 70.1 ). TABLE 70.1 Hereditary Myopathies Myopathy Type Locus Gene…
Diagnostic Approach Clinical Vignette A 65-year-old man developed a tingling sensation in the toes, which quickly gave way to painful numbness. Over the next few months, paresthesias ascended to involve his distal thighs and fingertips. Within 6 months, he required…
Clinical Vignette A 48-year-old hospital administrator began having difficulties during meetings when her back would stiffen up every time she was asked to get up to speak. Subsequently, she developed episodes of anxiety accompanied by her left leg tightening up.…
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Clinical Vignette A 65-year-old man presented with subacute onset of severe, unexplained orthostatic dizziness and light-headedness. Over the next 2 months, he developed dry mouth, dry eyes, urinary hesitancy, erectile dysfunction, and severe constipation. His previous medical history was unremarkable.…
Clinical Vignette A 45-year-old woman presents to clinic with episodic left-sided weakness, dysarthria, and gait imbalance. The first episode occurred 9 months ago upon awakening and resolved gradually over 2 days. She had no associated headache, visual symptoms, or nausea.…
The neurologic sciences are the most intellectually challenging, unequivocally fascinating, and tremendously stimulating of the various clinical disciplines. Initially, the vast intricacies of basic neuroanatomy and neurophysiology often seem overwhelming to both medical student and neuroscience resident alike. However, eventually…
Introduction Leprosy is one of the oldest diseases known to afflict humans, with descriptions of the disease present in sixth century BCE Indian texts. It is caused by Mycobacterium leprae ( M. leprae ), the organism first identified by the…