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424 Possible Causes for Axial Hypotonia

  • Malignant Migrating Partial Seizures of Infancy

    Eventually, children develop major axial hypotonia, pyramidal and extrapyramidal signs with athetotic movements and strabismus.[] […] 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[] 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[]

  • 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[] The presentation of symptoms is variable and there are variable degrees of severity Neonatal Period Feeding difficulties Autonomic dysfunction Hypotonia Motor symptoms Axial[] hypotonia (decreased tone or floppy - trunk, head and limbs) Limb hypertonia (increased tone to the limbs) Fluctuating limb tone Hypokinesia (decreased spontaneous movements[]

  • 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[] 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[]

  • X-Linked Intellectual Disability Type Cantagrel

    Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.[] Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control[]

  • Infantile Dystonia - Parkinsonism

    Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy.[] Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement[] hypotonia, gait disturbance, limb spasticity, cerebellar signs, optic atrophy and confirmed by PLA2G6 gene.[]

  • Early Infantile Epileptic Encephalopathy 25

    Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.[]

  • Warburg Micro Syndrome 3

    hypotonia, hypotonic upper limbs, hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral hypoplasia.[] The clinical picture evolved to a spastic tetraparesis with axial hypotonia and limbs dystonic movement disorder. He had dysphagia and severe intellectual disability.[] Additional systemic manifestations included axial hypotonia with evolving limb spasticity, and occasional seizures.[]

  • Atypical Phenylketonuria

    hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly.[] HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial[]

  • 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[] In addition, infants are ataxic, exhibit axial hypotonia, and have skeletal abnormalities consisting of long limbs and short torsos.[] Patients have frequent seizures, psychomotor retardation that is milder than in CDG-Ia, pronounced axial hypotonia, and strabismus.[]

  • 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.[]

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