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)

Alpha-dystroglycan (alpha-DG) is a glycoprotein that binds to laminin in the basal lamina and helps provide mechanical support. A group of muscular dystrophies are caused by glycosylation defects of alpha-DG and are hence collectively called alpha-dystroglycanopathy (alpha-DGP). Alpha-DGP is clinically characterized by a combination of muscular dystrophies, structural brain anomalies, and ocular involvement. So far, 6 causative genes have been identified: LARGE, POMGNT1, POMT1, POMT2, FKRP, and FKTN. Initially, alpha-DGP was classified under congenital muscular dystrophies; however, the clinical phenotype is now expanded to include a markedly wide spectrum ranging from the most severe, lethal congenital muscular dystrophy with severe brain deformity to the mildest limb girdle muscular dystrophy with minimal muscle weakness. This is exemplified by Fukuyama congenital muscular dystrophy (FCMD), which is the most prevalent alpha-DGP in Japan, and is caused by mutations in FKTN. FCMD is clinically characterized by a triad of mental retardation, brain deformities, and congenital muscular dystrophy, and a majority of FCMD patients have a homozygous 3-kb retrotransposal insertion in the 3'non-coding region. Typically, they are able to sit but never attain independent ambulation in their lives. Recently, a patient from Turkey harboring homozygous 1-bp insertion reportedly showed a severe brain deformity with hydrocephalus and died 10 days after birth. In contrast, the mildest FKTN phenotype, LGMD2L, was identified in 6 cases from 4 families in Japan. These patients harbored compound heterozygous mutation with 3-kb retrotransposal insertion in the 3'non-coding region and a novel missense mutation in the coding region. Clinically, these patients presented with minimal muscle weakness and dilated cardiomyopathy and had normal intelligence. These data clearly indicate that FKTN mutations can cause a broad spectrum of muscular dystrophies. Therefore, clinicians should always bear in mind the possibility of alpha-DGP when they have a patient suspected to have muscular dystrophy.
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PMID:[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. 1897 3

Cardiac disease in pet ferrets is common and includes dilated cardiomyopathy, arrhythmias, and acquired valvular disease. Clinical presentation of cardiac disease in ferrets may be similar to dog or cats, although hind limb weakness may be a prominent feature. Radiography, ECG, and ultrasound are all useful tools in the diagnosis of cardiac disease in ferrets. Therapeutics for cardiac disease in ferrets is based on recommendations for dogs and cats. The prognosis for cardiac disease in ferrets varies from fair to guarded, depending on underlying disease.
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PMID:Ferret cardiology. 1913 Oct 34

Hereditary myosin myopathies are a newly emerged group of diseases caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes. The phenotypes of these diseases are varied, ranging from prenatal nonprogressive arthrogrypotic syndromes to adult-onset progressive muscle weakness. They are caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes. Mutations have been reported in two of three MyHC isoforms expressed in adult limb skeletal muscle: type I (slow/beta-cardiac MyHC; MYH7) and type IIa (MYH2). Most of the mutations described in MYH7are associated with hypertrophic/dilated cardiomyopathy, with no skeletal muscle involvement. However, some mutations are associated with two distinct skeletal myopathies, namely Laing distal myopathy and myosin storage myopathy. Although initially thought not to have associated cardiac involvement, recent reports have indicated co-existent cardiac and skeletal muscle disease can occur in both. A myopathy associated with a specific mutation in MYH2 is associated with congenital joint contractures and external ophthalmoplegia. Mutations in embryonic MyHC (MYH3) and perinatal MyHC (MYH8) are associated with distal arthrogryposis syndromes with no or minor muscle weakness. This may be expected in myosin isoforms expressed predominantly during muscle development. Clinical findings, muscle morphology and molecular genetics in hereditary myosin myopathies are summarized in this chapter.
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PMID:Thick filament diseases. 1918 Oct 95

We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy. She had a mitochondrial DNA point mutation from guanine to adenine at nucleotide position 11778 and developed ataxic gait within 2 years after the onset of bilateral visual loss. A neurological examination detected horizontal nystagmus, bradylalia, and truncal and bilateral limb ataxia of the cerebellar type. She could walk, albeit unsteadily. There was no weakness in her arms and legs. Tendon jerks were diminished in both the upper arms. Bilateral knee and ankle jerks were absent, and the plantar responses were neutral. Paresthesia of the stocking type was present but no reduction of pinprick, position or vibration senses was detected in the paresthetic regions. Romberg's sign was negative. Brain MRI showed atrophic changes in both the cerebellar vermis and the hemispheres. Nerve conduction studies detected mildly decreased motor nerve conduction velocities in the median, ulnar and posterior tibial nerves. Ultrasound cardiography showed a dilated left ventricle. It was not possible to clarify the relationship between LHON and cerebellar atrophy, cardiomyopathy, and peripheral neuropathy. However, physicians, need to be aware that the patients may develop various neurological complications after the onset of optic neuropathy in LHON.
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PMID:[Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy]. 1930 2

In humans, mutations in ZASP (the gene for Z-band alternatively spliced PDZ-motif protein) are associated with dilated cardiomyopathy and left ventricular non-compaction. In particular, mutations in or around the Zasp motif seem to be related to myofibrillar myopathy. Thus, "zaspopathies" include symptoms such as Z-line disgregation, proximal and distal muscle weakness, cardiomyopathies, and peripheral neuropathies. In order to understand the role of ZASP in muscle structure and function, we have performed a molecular characterization of the Drosophila ortholog of human ZASP and a functional analysis following the post-transcriptional silencing of the Drosophila gene. Transcriptional analysis of dzasp has revealed six additional exons, with respect to the known 16, and multiple splice variants. We have produced transgenic lines harboring constructs that, through the use of the UAS/Gal4 binary system, have enabled us to drive dsRNA interference of dzasp in a tissue-specific manner. Knockdown individuals show locomotor defects associated with alterations of muscle structure and ultrastructure, consistent with a role of dzasp specifically in the maintenance of muscular integrity.
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PMID:Post-transcriptional silencing of the Drosophila homolog of human ZASP: a molecular and functional analysis. 1960 85

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease in children. It is an X-linked hereditary dystrophinopathy due to the absence of dystrophin. Its onset is often in early childhood and presents with proximal distribution of weakness and a progressive course. Cardiac involvement in DMD is common, and its onset is usually after the age of 10 years. The most common cardiac manifestations are a dilated cardiomyopathy and cardiac arrhythmia. However, pericardial effusion with cardiac tamponade is a very rare cardiac complication of DMD. We report a boy with DMD who initially presented with progressive dyspnea and an enlarged cardiac silhouette on chest radiography who subsequently developed a large pericardial effusion with cardiac tamponade. Early recognition of pericardial effusion with cardiac tamponade is important for institution appropriate therapy.
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PMID:Pericardial effusion with cardiac tamponade as a cardiac manifestation of Duchenne muscular dystrophy. 1962 36

We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomography showed atrophy and areas of low density in the left gluteus maximus, thigh, and calf muscles. The left sciatic nerve showed gadolinium enhancement on magnetic resonance imaging. A biopsy of the left sural nerve revealed pseudo-onion bulbs. Immunohistochemical staining was positive for epithelial membrane antigen and negative for S100 protein. Electron microscopy demonstrated myelinated or unmyelinated nerve fibers surrounded by concentric layers of perineurial cells. These results indicated intraneural perineurioma. The tumor was estimated at least from the nerve root to the ankle joint. The length of nerve involvement in this patient was the highest recorded in the literatures. Intraneural perineurioma is a very rare disorder, but is tend to be found in youth. This disorder should be considered when we see children with monomelic weakness and/or atrophy.
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PMID:A case of intraneural perineurioma presenting with monomelic atrophy in a child. 2000 70

Celiac disease (CD) is manifested by a variety of clinical signs and symptoms that may begin either in childhood or adult life. Neurological symptoms without signs of malabsorption have been observed for a long time in CD. In this report, an 8-year-old girl with CD presented with rarely seen dilated cardiomyopathy and stroke. The girl was admitted with left side weakness. Her medical history indicated abdominal distention, chronic diarrhea, failure to thrive, and geophagia. On physical examination, short stature, pale skin and a grade 2 of 6 systolic murmur were detected. Muscle strength was 0/5 on the left side, and 5/5 on the right side. Coagulation examinations were normal. Tests for collagen tissue diseases were negative. Factor V Leiden and prothrombin GA20210 mutations were negative. Tandem mass spectrophotometry and blood carnitine profiles were normal. Brain magnetic resonance imaging and cerebral angiography showed an infarction area at the basal ganglia level. Examinations of serologic markers and intestinal biopsy revealed CD. We emphasize that in differential diagnosis of ischemic stroke, CD should be kept in mind.
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PMID:Stroke and dilated cardiomyopathy associated with celiac disease. 2045 70

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy involving both cardiac and skeletal muscles. Cardiac involvement frequently leads to dilated cardiomyopathy, arrhythmias and may precipitate sudden cardiac death. Skeletal involvement is characterised by early contractures and muscle weakness in the humeroperoneal distribution. We describe the anaesthetic management of a 29-year-old patient with Emery-Dreifuss muscular dystrophy presenting for elective caesarean section and discuss the disorder and its potential anaesthetic implications.
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PMID:Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. 2071 41

We report a 29-year-old man with limb-girdle muscular dystrophy type 2M (LGMD2M) caused by a compound heterozygous mutation of 3-kb insertion in the 3'-untranslated region and c.1073A > C (p.Q358P) mutation in exon 9 in FKTN. He had been diagnosed since childhood as having Becker muscular dystrophy based on limb-girdle muscle weakness and calf muscle hypertrophy. Loss of ambulation occurred at age 26 years and cardiomyopathy was noted one year later. Muscle biopsy at age 29 revealed dystrophic changes with loss of immunoreactivity to alpha-dystroglycan (alpha-DG), which prompted us to analyze FKTN and subsequent establishment of the diagnosis of LGMD2M. Brain MRI revealed hypoplasia of the right cerebellar hemisphere and tonsil. Dysplastic part was present in the lower medial part of the hypoplastic hemisphare, which was bordered by a deep cleft. Previously reported LGMD2M patients had mild or minimal muscle weakness in addition to dilated cardiomyopathy. In contrast, our patient had more severe skeletal muscle weakness and loss of ambulation. Treatment with 3-blockers or angiotensin II converting enzyme blockers has been reported to be efficacious for cardiomyopathy in patients with muscular dystrophy. The precise diagnosis should be established early in patients with muscular dystrophy complicated with cardiomyopathy.
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PMID:[Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report]. 2096 Sep 33


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