Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.
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PMID:Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. 321 30

Chronic adriamycin (ADR) intoxication with cardiomyopathy developed in young Beagle dogs given weekly IV injections (1 mg/kg of body weight) for 20 weeks (cumulative dose 400 mg/m2). Eighteen dogs were allotted equally to three groups: group A received ADR only, group B was given ADR and simultaneous weekly doses of vitamin E (17 mg/kg of body weight as alpha-tocopherol acetate), and group C received ADR, weekly doses of vitamin E as in group B, and selenium (0.06 mg/kg of body weight as selenite). The dogs reacted with cutaneous hyperemia, head shaking, and vomiting immediately after ADR injection. After 4 to 6 weekly injections, all the dogs developed alopecia that was present initially over the head and subsequently extended to the ventral portions of the neck, thorax, and abdomen and the proximal inner areas of the limbs. Other skin lesions present in alopecic areas were secondary ulcerative dermatitis and melanosis. Testicular atrophy and cachexia developed in the dogs, but damage was not present in bone marrow, alimentary tract, kidney, and bone with the dosage schedule utilized. Hematologic studies showed no significant alterations. Supplementation with vitamin E alone or with selenium failed to alter the incidence and severity of extracardiac ADR-induced lesions. This study shows that the dog is a good model for studies of chronic ADR-induced cardiotoxicity, as cardiac damage was consistently produced and ADR-associated extracardiac lesions were of minimal severity.
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PMID:Clinical observations, cutaneous lesions, and hematologic alterations in chronic adriamycin intoxication in dogs with and without vitamin E and selenium supplementation. 740 87

We report two cases of Kennedy's disease (muscle weakness, amyotrophy, intentional tremor, endocrine abnormalities, and denervation signs at electromyography). This entity must be differentiated from other motor neuron disorders by the genetic pattern (X-liked recessive), gynecomastia, testicular atrophy, oligospermia and good prognosis. A discussion about the clinical pattern and evolution is made.
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PMID:[Kennedy disease: report of 2 cases]. 854 Aug 24

A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.
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PMID:Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. 894 Dec 70

Two brothers with slowly progressive weakness and congenital nystagmus are presented. DNA analysis confirmed X-linked recessive bulbospinal muscular atrophy (XBSMA, Kennedy's disease) by demonstration of increased size of a CAG-triplet repeat on the androgen receptor gene on the X-chromosome. XBSMA is characterized by almost symmetrical muscular atrophy, weakness and fasciculations predominantly of bulbar, facial and proximal muscles of the extremities, with onset in the third to fifth decade. Tendon reflexes are depressed and pyramidal signs are absent. Sensory symptoms are clinically rare, but sensory nerve action potentials are frequently abnormal. Additional symptoms are important for differential diagnosis, and include postural tremor, gynecomastia, diabetes mellitus, testicular atrophy and impotence. Differentiation of this hereditary disorder from treatable conditions such as multifocal motor neuropathy or amyotrophic lateral sclerosis is essential. Though life expectancy is normal, patients become disabled in the course of the disease and need supportive care. Periodic testing for diabetes is recommended, and genetic counseling should be provided for patients and their relatives.
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PMID:[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)]. 964 48

Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X chromosome (Xq 11-12) with expanded CAG triplets (more than 347 repeats). We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in the carrier asymptomatic woman. This is the first Brazilian family with genetic molecular diagnosis of Kennedy's disease. This disease must be included in the differential diagnosis of motor neuron disease since it has a distinct prognosis and genetic counseling is mandatory to the carriers.
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PMID:[X-linked recessive bulbospinal muscular atrophy (Kennedy's disease). A family study]. 985 Jul 62