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350 Possible Causes for Axial Hypotonia, Muscle Hypotonia

  • Early Infantile Epileptic Encephalopathy 25

    Small head circumference [ more ] 0000252 Multifocal seizures 0031165 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Spasticity Involuntary muscle stiffness[rarediseases.info.nih.gov] Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.[uniprot.org] […] tone (hypotonia) and a lack of muscle control or coordination of voluntary movements, such as walking or picking up an object (ataxia) Episodes of body stiffening or weakness[tessresearch.org]

  • Zellweger Syndrome

    The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, facial dysmorphy, posterior embryotoxon, and[ncbi.nlm.nih.gov] Methods and results: Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, facial dysmorphy, posterior[jmg.bmj.com]

  • Infantile Neuroaxonal Dystrophy

    A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have[ncbi.nlm.nih.gov] Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypotonia.[ncbi.nlm.nih.gov] The patient was a boy with negative family history who showed progressive neurologic symptoms (deviation of bulbi, muscle hypotonia and quadruplegia in flexion) soon after[semanticscholar.org]

  • Methylmalonic Acidemia

    8), muscle hypotonia (n 8), recurrent vomiting (n 4), tremor (n 2), ataxia (n 2), and abnormal posture (n 1).The onset age of seizure ranged from 8 days to 11 years.[ncbi.nlm.nih.gov] On admission, her neurologic examination was significant for axial hypotonia, right-extremity hypertonia, and aphasia. Initial CT findings were normal.[ajnr.org] Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly),[ghr.nlm.nih.gov]

  • Pelizaeus-Merzbacher Disease

    The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[contact.org.uk] In an eutrophic first son born at term, stridor, nystagmus-like eye movements and axial hypotonia were noted immediately after birth and pyramidal signs appeared at 2 months[ncbi.nlm.nih.gov] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[kattivatrends.com]

  • Lissencephaly

    Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[disabilitybenefitscenter.org] Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia.[ncbi.nlm.nih.gov] […] spasms impaired cognition lack of motor skills hypotonia (lack of muscle tone) There is also a risk of complications, which may be fatal.[medic8.com]

  • Pyruvate Carboxylase Deficiency

    They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma.[en.wikipedia.org] All patients had axial hypotonia and tachypnea during the first hours of life. The initial level of consciousness was preserved in most patients.[ncbi.nlm.nih.gov] Liver failure, decreased muscle tone (hypotonia), intellectual disability, abnormal eye movements, irregular signs and reflexes due to damage of upper motor neurons (pyramidal[rarediseases.org]

  • Aicardi's Syndrome

    Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties[diseaseinfosearch.org] […] or “low muscle tone” is most common).[infantilespasmsproject.org] Musculoskeletal abnormalities manifesting in this syndrome are scoliosis, small hands, rib and vertebral anomalies, axial hypotonias and limb hypertonias.[symptoma.com]

  • Deletion of the Long Arm of Chromosome 18

    The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[malacards.org] There was significant axial hypotonia during the first year. Developmental milestones were delayed in all areas.[jmg.bmj.com] Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder.[ghr.nlm.nih.gov]

  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

    Peripheral hypotonia that may affect any place between the spinal cord and muscle.[news-medical.net] […] syndrome 2. - - Belgium - - 0 - - MCAHS-2;GPIBD-4 The patients had profound retardation, axial hypotonia, epileptic seizures, and hypsarrhythmia.[databases.lovd.nl] […] and muscle weakness.[pedsinreview.aappublications.org]

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