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Malignant Migrating Partial Seizures of Infancy
Eventually, children develop major axial hypotonia, pyramidal and extrapyramidal signs with athetotic movements and strabismus.[books.google.de]
[…] hypertonia and spasticity – 4 years HM with WMI 7 7 44 52 Abnormal signal putamen and caudate – Gastrointestinal dysmotility Yes, axial hypotonia Axial hypotonia 54 months[academic.oup.com]
hypotonia 19 months – Normal MRS Hypsarrhythmia (6 months) 2 10 52 12 Atrophy – Gastrointestinal dysmotility No Axial hypotonia 41 months – HM with WMI Movement disorder[academic.oup.com]
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Aromatic L-Amino Acid Decarboxylase Deficiency
Characteristic features included axial hypotonia, hypokinesia, and athetosis, with superimposed episodes of ocular convergence spasm, oculogyric crises, dystonia, and limb[ncbi.nlm.nih.gov]
The presentation of symptoms is variable and there are variable degrees of severity Neonatal Period Feeding difficulties Autonomic dysfunction Hypotonia Motor symptoms Axial[aadcresearch.org]
hypotonia (decreased tone or floppy - trunk, head and limbs) Limb hypertonia (increased tone to the limbs) Fluctuating limb tone Hypokinesia (decreased spontaneous movements[aadcresearch.org]
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Waardenburg Syndrome Type 2E
hypotonia Absence of olfactory bulbs (in some patients) Brain hypomyelination Delayed psychomotor development A subset of patients have neurologic abnormalities Mental retardation[mnglabs.com]
Variable phenotype - Incomplete penetrance of some features Molecular Basis - Caused by mutation in the SRY-box-10 gene (SOX10, 602229.0005 ) Neurologic Central Nervous System Axial[mnglabs.com]
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X-Linked Intellectual Disability Type Cantagrel
Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.[uniprot.org]
Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control[cloud-clone.com]
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Infantile Dystonia - Parkinsonism
Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy.[diseaseinfosearch.org]
Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement[ncbi.nlm.nih.gov]
hypotonia, gait disturbance, limb spasticity, cerebellar signs, optic atrophy and confirmed by PLA2G6 gene.[questia.com]
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Early Infantile Epileptic Encephalopathy 25
Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.[uniprot.org]
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Warburg Micro Syndrome 3
hypotonia, hypotonic upper limbs, hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral hypoplasia.[bio2rdf.org]
The clinical picture evolved to a spastic tetraparesis with axial hypotonia and limbs dystonic movement disorder. He had dysphagia and severe intellectual disability.[omicsonline.org]
Additional systemic manifestations included axial hypotonia with evolving limb spasticity, and occasional seizures.[iamg.in]
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Atypical Phenylketonuria
hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly.[genecards.org]
HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial[genecards.org]
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Congenital Disorder of Glycosylation Type 2J
CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well[genecards.org]
In addition, infants are ataxic, exhibit axial hypotonia, and have skeletal abnormalities consisting of long limbs and short torsos.[themedicalbiochemistrypage.org]
Patients have frequent seizures, psychomotor retardation that is milder than in CDG-Ia, pronounced axial hypotonia, and strabismus.[themedicalbiochemistrypage.org]
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Early Infantile Epileptic Encephalopathy 28
The following abnormal features were noticed during the neurological examination: a lack of gaze fixation, present but reduced limb movements, and slight axial hypotonia.[jle.com]