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…
Clinical Vignette A 35-year-old man sought medical attention for leg weakness. He noticed difficulty getting up from low chairs and ascending stairs. Looking back, he reported that 10 years previously he had noticed some difficulty when trying to stand after…
Clinical Vignette A 54-year-old man reported painless left arm weakness for 6 months. While exercising at the gym, he noticed difficulty lifting weights with his left arm. Progressively he had difficulty cutting food and opening jars with his left hand.…
Introduction Hirayama disease is a rare, slowly progressive, and self-limiting cervical myelopathy related to neck flexion in young adults. It is characterized by a pure focal amyotrophy in the C7-T1 innervated musculature. It presents classically in an adolescent male with…