Handbook of clinical neurology
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This chapter on lid function is comprised of two primary sections, the first on normal eyelid anatomy, neurological innervation, and physiology, and the second on abnormal eyelid function in disease states. The eyelids serve several important ocular functions, the primary objectives of which are protection of the anterior globe from injury and maintenance of the ocular tear film. ⋯ Detailed description of the neurological innervation patterns and neurophysiology of each of these lid behaviors is provided. Abnormal lid function is divided by conditions resulting in excessive lid closure (cerebral ptosis, apraxia of lid opening, blepharospasm, oculomotor palsy, Horner's syndrome, myasthenia gravis, and mechanical) and those resulting in excessive lid opening (midbrain lid retraction, facial nerve palsy, and lid retraction due to orbital disease).
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Review
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate severity in between. UCMD is characterized by early-onset weakness, associated with pronounced distal joint hyperlaxity and the early onset or early progression of more proximal contractures. ⋯ BM may be of early or later onset, but is milder in its manifestations, typically allowing for ambulation well into adulthood, whereas typical joint contractures are frequently prominent. A genetic spectrum is emerging, with BM being caused mostly by dominantly acting mutations, although rarely recessive inheritance of BM is also possible, whereas both dominantly as well as recessively acting mutations underlie UCMD.
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Essential tremor (ET) is one of the most common neurological disorders among adults. For many years, ET was viewed as a benign monosymptomatic condition, characterized by a kinetic arm tremor, yet over the last 10 years, a growing body of evidence suggests that this disorder is a progressive condition that is heterogeneous. ⋯ Pharmacotherapy is initiated when the tremor interferes with the patient's ability to perform daily activities or when the tremor becomes embarrassing or affects health-related quality of life. For severe tremor, deep-brain stimulation of the thalamus may improve function.
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Historical Article
Restless legs syndrome and periodic leg movements in sleep.