The following medical news items are relevant to diagnosis and misdiagnosis issues for Amyotrophic lateral sclerosis:
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Characteristic clinical features indicate a combination of upper and lower motor neuron involvement without sensory impairment. Electromyography and muscle biopsy indicate that the motor nerves aren’t functioning, yet sensory nerves are normal. Computed tomography scan and magnetic resonance imaging may help rule out other conditions, such as multiple sclerosis, spinal cord neoplasm, central nervous system syphilis, polyarteritis, syringomyelia, myasthenia gravis, progressive muscular dystrophy, and progressive strokes.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Generalized
❑ Steroid myopathy
❑ Diabetic amyotrophy
❑ Polymyalgia rheumatica
❑ Polymyositis
❑ Myasthenia gravis
❑ Guillain-Barré syndrome
❑ Hyperthyroidism
❑ Muscular dystrophy
❑ Eaton-Lambert syndrome
❑ Metabolic myopathy
Paraparesis
❑ Trauma
❑ Multiple sclerosis
❑ Amyotrophic lateral sclerosis
❑ Guillain-Barré syndrome
❑ Epidural abscess
❑ Subacute combined degeneration
❑ Syringomyelia
❑ Aortic dissection
❑ Hysterical
Motor weakness should be distinguished from functional weakness due to systemic disease. Patients with true motor weakness will complain of difficulty performing specific tasks or a feeling of heaviness or stiffness in their limbs. Myopathy can be distinguished by proximal weakness (climbing stairs or combing hair), symmetrical distribution, absence of paresthesias and pain, or disturbance of bowel or bladder function. Proximal muscle weakness is more prominent in myopathy, distal weakness in peripheral nerve or anterior horn cell disease. Bulbar weakness, manifest as difficulty speaking and swallowing, is consistent with anterior horn cell disease or neuromuscular junction disorders. Ocular weakness occurs with myasthenia gravis and myotonic or oculopharyngeal dystrophy.
Acute generalized weakness with an onset over hours can be caused by low levels of potassium, calcium, sodium, magnesium, or phosphate; by botulism; or by viral inflammatory myopathy. Spasticity, manifest as increased tone and sudden release (“clasp-knife”), occurs with CNS lesions. Rigidity occurs with extrapyramidal disorders. Functional overlay should be suspected in the presence of ratcheting “give-away” weakness.
Peek sign: Orbicularis oculi weakness is observed on gentle eye closure. After initial complete apposition of the lid margins, they separate within seconds and the white of the sclera peeks through. Ice test: A glove finger filled with crushed ice is placed over the more ptotic eyelid for 2 minutes. An increase in opening of 2 mm or more is a positive result. Quiver eye movements: very fast, small twitch, jerk-like movements of the eyes upon changing the direction of gaze. Unintelligible speech: after prolonged speaking.
Source: Field Guide to Bedside Diagnosis, 2007
Characteristic features indicate a combination of upper and lower motor neuron involvement without sensory impairment. Electromyography and a muscle biopsy help show nerve, rather than muscle, disease. The protein content of cerebrospinal fluid is increased in one-third of patients, but this finding alone doesn’t confirm ALS.
Diagnosis must rule out multiple sclerosis, spinal cord neoplasm, polyarteritis, syringomyelia, myasthenia gravis, and progressive muscular dystrophy.
Source: Handbook of Diseases, 2003
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