Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 54-year-old man with progressive proximal muscle atrophy and gynecomastia. The patient had an insidious onset of weakness in his lower extremities at age 14, in that he noted a difficulty in standing up from a chair. Soon after he noted some difficulty in climbing up stairs. At age 35, he noted weakness in his arms; his weakness slowly progressed in that he became unable to walk or stand alone before 40 years of age. He also noted gynecomastia at that age. He was admitted to our hospital for the work up on September 16, 1993, when he was 54-year-old. On admission, he was alert and oriented; his BP was 150/70 mmHg; he had bilateral gynecomastia, however, no other skeletal deformities were found. On neurologic examination, he was mentally sound without dementia, and his higher cerebral functions were normal. Cranial nerves also appeared intact without facial atrophy, dysarthria, or dysphagia; no atrophy was noted in the tongue. He had marked muscle atrophy in both upper and lower extremities more marked in the proximal portions; muscle strength was approximately in the range of 2/5 to 3/5 in the proximal parts, and 4/5 in the distal parts in both upper and lower extremities. No fasciculation was noted; muscle tone was flaccid; no ataxia was present. Deep reflexes were either lost or markedly diminished. No Babinski sign was noted. Sensation was intact. Laboratory examination revealed normal blood counts; serum CK was slightly increased to 131 IU/l; ECG showed complete right bundle branch block; EMG revealed no active units in the right biceps brachii, deltoid, quadriceps femoris, and triceps surae muscles; in other muscles tested, motor unit potentials of low amplitude and short duration were seen; in the right tibialis anterior muscle, however, motor unit potentials with an amplitude up to 6 m V were also seen. Nerve conduction velocities were normal. A diagnostic procedure was performed. He was discussed in the neurological CPC, and the chief discussant arrived at the conclusion that this patient had Becker type of progressive muscular dystrophy. In her differential diagnosis, the possibility of Kennedy-Alter-Sung syndrome was discussed because this patient had gynecomastia. However, the discussant excluded that possibility because of absence of both bulbar symptoms and typical neurogenic changes in his EMG. The diagnostic procedure was a muscle biopsy on the left tibialis anterior muscle. Histologic observation on HE stained specimens revealed marked inequality in the muscle fiber diameters, increase in endomysial nuclei, proliferation of connective tissue, and fiber splitting.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 54-year-old man with progressive proximal muscle atrophy and gynecomastia]. 766 8

Chronic graft versus host disease (GVHD) is a common late complication of hematopoietic stem cell transplantation. Polymyositis is a rare manifestation of chronic GVHD after donor lymphocyte infusion (DLI). Patients with both polymyositis and myocarditis have not been reported to date. Here, we report an 18-year-old female patient who developed polymyositis and myocarditis after a DLI. The patient developed the symptoms of fever, generalized myalgia, dysarthria, and asymptomatic sinus tachycardia at DLI day +102, and 17 days after the discontinuation of immunosuppressants. The laboratory testing showed elevated muscle enzymes, and the electromyographic examination revealed myopathic abnormalities compatible with the diagnosis of myositis. The muscle biopsy showed CD8+ T cell infiltration of the muscle fibers. The electrocardiogram (ECG) showed sinus tachycardia with an incomplete right bundle branch block, anteroseptal ST elevation and lateral ST depression. Echocardiography showed mild hypokinesia of the left interventricular septal wall without evidence of infection or leukemic relapse. The patient was immediately treated with 60 mg/day of prednisone and tacrolimus after the diagnosis of polymyositis and myocarditis, apparently associated with chronic GVHD. The cardiac and muscle enzymes decreased and the ECG normalized after immunosuppressant treatment. The follow-up ECG 2 weeks after initiation of therapy was normal.
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PMID:Polymyositis and myocarditis after donor lymphocyte infusion. 1947 35

Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.
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PMID:Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder. 2653 Feb 6