Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
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PMID:Mitochondriopathies. 1500 63

We explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra-pyramidal disorder and white matter disease were excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone); females had clear evidence of hypogonadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypogonadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.
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PMID:Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. 1716 99

Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and anterior laryngeal web are rare congenital anomalies and are often constituent of polymalformation syndromes. We report a case of a 9-month-old patient initially referred in otolaryngology (ENT) for dysphonia and recurrent respiratory infections. Physical exam and fiberoptic nasopharyngolaryngoscopy showed bifid epiglottis and laryngeal web associated with BBS. Those laryngeals anomalies may be underdiagnosed in BBS and this case supports the importance of upper airway evaluation by an ENT team, especially with respiratory symptoms or dysphagia.
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PMID:Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. 3102 84

Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1- and CUL4-associated factor 17. It is a multisystemic disorder characterized by hypogonadism, adolescent- to young adult-onset diabetes mellitus, hypothyroidism, and alopecia. Neurologic involvement includes childhood-onset moderate bilateral sensorineural hearing loss, mild intellectual disability adolescent- to young adult-onset of extrapyramidal findings, dysarthria, and dysphagia. Brain imaging typically reveals iron deposition in the globus pallidus and periventricular leukodystrophy. We report the case of a 31-year-old Portuguese female, the only child of a consanguineous couple. She presented with cognitive impairment, spastic paraparesis, lower limb dystonia, dysarthria, and dysphagia. She also had hypergonadotrophic hypogonadism associated with primary amenorrhea, insulin-dependent diabetes mellitus with retinopathy, primary hypothyroidism, moderate bilateral sensorineural hearing loss, and alopecia. Serial brain magnetic resonance imaging showed a progressive periventricular leukodystrophy with pontine involvement and significant bilateral iron deposition in the globus pallidus, substantia nigra, and red nucleus. The diagnosis of Woodhouse-Sakati Syndrome was eventually proposed and DCAF17 gene sequencing identified a novel likely pathogenic homozygous variant NG_013038.1(NM_025000.3):c.1091+2T>C. Genetic testing allowed a more accurate prognosis and a precise genetic counseling for our patient's family.
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PMID:Woodhouse-Sakati Syndrome: First report of a Portuguese case. 3134 85