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226 Possible Causes for Diffuse Hypotonia

  • Congenital Muscular Dystrophy

    J Hum Genet. 2017 Nov;62(11):945-948. doi: 10.1038/jhg.2017.71. Epub 2017 Jul 6. Author information 1 Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan. 2 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. 3 Department of Pediatrics, Kobe[…][ncbi.nlm.nih.gov]

  • Epilepsy

    hypotonia, mild ataxia with wide based gait, mild tremor general hypotonia general hypotonia axial hypotonia, secondary microcephaly axial hypotonia Development at last follow[ncbi.nlm.nih.gov] […] poly)spike waves; paroxysmal fast activity slow background, diffusemultifocal sharp waves and sharp waves-slow waves; paroxysmal fast activity Neurological examination mild diffuse[ncbi.nlm.nih.gov]

  • Familial Angiolipomatosis

    Multiple abdominal lipomatous formations, diffuse axial and peripheral hypotonia and hypotropy were also evident (Fig. 1A, B).[medicaljournals.se] (A) Asymmetric face, frontal-parietal hyperostosis, long neck, low-set antiverted ears and diffuse hypotonia; (B) dropped shoulders and scoliosis; (C) aracnodactyly, with[medicaljournals.se]

  • Neonatal Adrenoleukodystrophy

    It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface[orpha.net] It is characterized by hypotonia, seizures , diffuse encephalopathy , sensorineural hearing loss , peripheral neuropathy , mild facial dysmorphism (hypertelorism and a flat[rarediseases.info.nih.gov]

  • Rotavirus

    Electroencephalography showed diffuse high-voltage delta wave activity in each patient.[ncbi.nlm.nih.gov] Both patients had characteristic history of consciousness disturbances subsequent to several days of diarrhea, vomiting and fever, and cerebellar symptoms such as hypotonia[ncbi.nlm.nih.gov]

  • Benign Familial Infantile Epilepsy

    , incoordination, and impaired dexterity MRI may be normal or show mild generalized atrophy and/or hippocampal sclerosis EEG may show diffuse background slowing with multifocal[rarediseases.org] […] seizure trigger may decline as the patient ages Seizure exacerbation with the use of sodium channel agents Intellectual disability evident by 18-60 months Crouched gait, hypotonia[rarediseases.org]

  • Familial Infantile Myoclonic Epilepsy

    , incoordination, and impaired dexterity MRI may be normal or show mild generalized atrophy and/or hippocampal sclerosis EEG may show diffuse background slowing with multifocal[rarediseases.org] […] seizure trigger may decline as the patient ages Seizure exacerbation with the use of sodium channel agents Intellectual disability evident by 18-60 months Crouched gait, hypotonia[rarediseases.org]

  • Generalized Epilepsy with Febrile Seizures Plus

    , incoordination, and impaired dexterity MRI may be normal or show mild generalized atrophy and/or hippocampal sclerosis EEG may show diffuse background slowing with multifocal[rarediseases.org] […] seizure trigger may decline as the patient ages Seizure exacerbation with the use of sodium channel agents Intellectual disability evident by 18-60 months Crouched gait, hypotonia[rarediseases.org]

  • Central Sleep Apnea

    Joubert syndrome-related disorders are autosomal-recessive disorders characterized by diffuse hypotonia, developmental delay, abnormal respiratory patterns, and the pathognomonic[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    SMA and infantile botulism especially should be considered in the setting of diffuse hypotonia on exam and appropriate supportive care initiated pending confirmatory testing[pediatricsectionwp.acep.org] His lower limbs were at first in hypertonia, and then gradually progressed into hypotonia.[ncbi.nlm.nih.gov] More interestingly, bronchoscopy has shown the diffuse tracheobronchomalacia, which had been reported only once in a SMARD1 patient who also had the same mutation (c.1737C[ncbi.nlm.nih.gov]

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