Allgrove syndrome and motor neuron disease
نویسندگان
چکیده
منابع مشابه
Allgrove syndrome.
Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding....
متن کاملFinger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?
INTRODUCTION Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. METHODS To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients. RESULTS All pa...
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Neurologists in the 19th century recognized that muscle weakness could be due to primary disorders of muscle or secondary to loss of neuromuscular integrity, as happens when peripheral nerves are cut or when motor neurons degenerate. Furthermore, it was observed that there are forms of motor neuron degeneration which selectively affect upper motor neurons or lower motor neurons. A combination o...
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Hadjikoutis and Wiles draw attention to a number of circumstances in which the serum chloride and bicarbonate can be misleading. They do not mention that they will also be misleading if they are measured when hypercapnia is increasing or decreasing. An exacerbation of hypercapnia will take 4 – 6 days to raise the serum bicarbonate and lower the serum chloride to new steady levels. 1 How long it...
متن کاملMotor neuron disease
Motor neuron disease (MND) represents one ofthe major unsolved problems in neurology. The literature is characterized by numerous speculative theories, mostly derived by analogy with other recognized causes of motor neuron death such as poliomyelitis, or from toxic exposures such as lead poisoning. However, analogous reasoning of this type has not, so far, given insights into MND itself, or res...
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ژورنال
عنوان ژورنال: Neurology International
سال: 2018
ISSN: 2035-8377,2035-8385
DOI: 10.4081/ni.2018.7436