Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially hazardous feature. No previous report of this condition has been found.
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PMID:Hereditary distal spinal muscular atrophy with vocal cord paralysis. 742 92

Charcot- Marie-Tooth disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot-Marie-Tooth disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot-Marie-Tooth disease type 2C. Genetic analysis excluded linkage to locus of Charcot-Marie-Tooth disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot-Marie-Tooth disease type 2C is clinically and genetically different from Charcot-Marie-Tooth disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
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PMID:Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 1206 59

Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management.
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PMID:Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. 2819 Jun 46

Hoarseness of voice due to Vocal Cord Palsy (VCP) resulting from aortic aneurysm is a rare entity. Hoarseness due to left Recurrent Laryngeal Nerve (RLN) paralysis caused by identifiable cardiovascular disease has been described as Ortner's syndrome or Cardiovocal syndrome. Very rarely, thoracic aortic aneurysm can cause Phrenic Nerve (PN) palsy causing hemidiaphragm paralysis. But, aortic aneurysm causing both RLN and PN palsy is an extremely rare occasion. Our literature review showed only three cases of combined RLN and PN palsy due to thoracic aortic aneurysm. Here we report a 70-year-old patient having hoarseness of voice for six years for which he was on symptomatic treatment. He presented to us with cough and blood tinged sputum, left sided chest pain, loss of appetite and weakness since two months duration. Based on clinical history and chest radiograph, lung malignancy was suspected. To our surprise, Contrast Enhanced Computed Tomography (CECT) revealed partially thrombosed saccular thoracic aneurysm originating distal to origin of left subclavian artery. He was referred to the cardiothoracic vascular surgeon for surgical treatment, but was reluctant to go for surgery. He is now being followed up by cardiothoracic vascular surgery and cardiology department and his condition has remained the same.
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PMID:Combined Left Recurrent Laryngeal Nerve and Phrenic Nerve Palsy: A Rare Presentation of Thoracic Aortic Aneurysm. 2865 76