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901 Possible Causes for Hearing Impairment, Muscle Hypotonia

  • Down Syndrome

    Abstract We report a patient with non-Down syndrome AML, also known as AMKL, with monosomy 7, who was also obese and had a hearing impairment and mental retardation.[] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[] The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging[]

  • Niemann-Pick Disease Type C

    CONCLUSION: There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset[] […] tone), hypotonia, ptosis (drooping of the upper eyelid), microcephaly (abnormally small head), psychosis, progressive dementia, progressive hearing loss, bipolar disorder[] Hearing impairment is not uncommon. A cognitive decline is more readily observable in this form of the disease than in early infantile NPC.[]

  • Glycogen Storage Disease Type 2

    impairment Osteoporosis/osteopenia Treatment Enzyme replacement therapy (ERT) Until recently in the UK treatment for Pompe disease was limited to supportive therapy.[] […] deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile[] BAER and VER testing demonstrate impairment of hearing and vision. NCS velocities are slowed, reflecting peripheral demyelination and neuropathy.[]

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[] […] tone (hypotonia) and muscle weakness at birth.[]

  • Propionic Acidemia

    It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the hearing impairment of patients with[] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[]

  • Rubinstein-Taybi Syndrome

    Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection.[] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[] impairment Deafness Hearing defect [ more ] 0000365 Hip dysplasia 0001385 Keloids 0010562 Polyhydramnios High levels of amniotic fluid 0001561 Ptosis Drooping upper eyelid[]

  • Alpha-Mannosidosis

    impairment (moderate-to-severe sensorineural hearing loss), gradual impairment of mental functions and speech, and often, periods of psychosis.[] (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).[] Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[]

  • Wolf Hirschhorn Syndrome

    CONCLUSIONS: More than 25 genes for nonsyndromic hereditary hearing impairment have been mapped.[] Generalized muscle hypotonia was observed at birth.[] Hypotonia Generalized muscle hypotonia was observed at birth.[]

  • Primrose Syndrome

    The patient was a mentally retarded 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage.[]

  • Deletion of the Long Arm of Chromosome 18

    Two cases with impaired hearing are presented in this paper including one case with complex external ear and middle ear malformations.[] The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[] Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder.[]

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