Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The medical findings from a population-based study of Prader-Willi syndrome (PWS) are discussed (in which birth incidence of PWS was estimated at 1:22,000 and death rate at over 3% per annum). In this study the prevalence of specific medical disorders that might account for a shortened life expectancy were investigated. Of all people with a possible diagnosis of PWS, only those meeting clinical criteria and/or with a confirmed genetic diagnosis were included in the study. Sixty-six individuals, 40 males and 26 females with a mean age of 19 years (range of 0 to 46 years) agreed to participate in the population-based study group. A prevalence rate of 25% for non-insulin dependent diabetes mellitus (NIDDM) was found in adults. Mean age at onset was 20 years. Those with NIDDM had a higher past maximum body weight and a greater likelihood of positive family history. Nearly 50% across the age groups reported a history of recurrent respiratory infections. High rates of fractures (29%), leg ulceration (22% in adults), sleep disorders (20%), and severe scoliosis (15% in childhood) were also reported. It is postulated that hypotonia is a possible contributory factor to the risk of strabismus, scoliosis, and respiratory infections. Other causes of morbidity, in particular the high rates of NIDDM, may be due to a failure to manage over-eating resulting in severe obesity. Early diagnosis and clear guidance to families about these risks and how they might be prevented is recommended. It is hypothesized that the high pain threshold may result in the presence of some illness not being apparent.
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PMID:Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. 1199 93

Restless legs syndrome (RLS) exhibits sensorimotor symptoms. In familial cases, a gene at chromosomal location 9p-24-22 is linked to RLS and the expressed mutation is Dopamine Receptor Specific Individual Sensitivity (DRSIS). The symptoms are triggered during changes in alertness, generally at sleep hours, resulting from insufficient dopamine transmission. The conscious experience of sensory abnormalities are described as 'an urge to move the limbs with or without paresthesias' leading to motor signs such as periodic limb movements and motor restlessness which exhibit temporary loss of extensor motor system dominance over the flexor motor system of the upright posture. The relationship of the expressed mutation to EEG alpha activity makes RLS a sleep disorder as well as a cognitive dysfunction. The recurrent character of sensorimotor symptoms impede the patient's ability to sleep, wake and force to move leading to insomnia. In Uner Tan Syndrome, the nonsense mutation in the same gene leads to underdevelopment of the neural substrates of upright posture. The defects include dopamine receptor deficiency (DRD) leading to severe cognitive dysfunctions and motor disorders-complete loss of extensor motor system dominance over the flexor motor system-quadrupedality, primitive speech, cerebellar symptoms, and strabismus. Comparisons between the neural substrates of sensorimotor symptoms seen in RLS and MRI findings for cases of Uner Tan Syndrome show cortico-cerebellar hypoplasias in the neural networks involved in upright posture. Both RLS and Uner Tan Syndrome seem to be due to different mutations in the dopamine receptor gene at 9p-24 locus, affecting the diencephalon dopaminergic system and the neural networks involved in upright posture.
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PMID:In restless legs syndrome, the neural substrates of the sensorimotor symptoms are also normally involved in upright standing posture and biped walking. 1939 50

We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM-related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.
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PMID:Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). 2018 11