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479 Possible Causes for Global Hypotonia

  • Mastitis

    It wasn't until two years later, when we got his diagnosis of fragile X, that his failure to latch on and global hypotonia made any sense.[]

  • Chronic Kidney Disease

    An 11-month-old boy presented with renal impairment associated with a truncal ataxia, bilateral sensorineural hearing loss, hypotonia, delayed visual maturation and global[]

  • X-linked Parkinsonism-Spasticity Syndrome

    […] developmental delay, intellectual disability, characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male cases.[] Time: 12:30pm-2:00pm Location: Exhibit Hall located in Hall B, Level 2 Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global[]

  • Dilated Cardiomyopathy

    We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy.[] […] and global developmental delay.[] In individuals with global developmental delay, hypotonia, ataxia, the dilated cardiomyopathy with ataxia syndrome should be considered even in the differential diagnosis[]

  • Pallidopyramidal Syndrome

    Hearing impairment Intellectual disability Global developmental delay Encephalopathy Areflexia Dysmetria Neuronal loss in central nervous system Amyotrophic lateral sclerosis[] […] limb muscle weakness Respiratory failure Abnormality of movement Postural instability Tetraplegia Spastic tetraplegia Drowsiness Progressive cerebellar ataxia Generalized hypotonia[]

  • West Syndrome

    A 5 year-old boy exhibited global hypotonia with generalized muscle weakness from birth.[] His MRI also picked up that his brain wasn't quite fully formed at the front and sides and this had resulted in him having global developmental delay and hypotonia (floppy[]

  • Psychomotor Retardation

    Abstract We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth[]

  • Neonatal Severe Primary Hyperparathyroidism

    He was admitted to another hospital at 18 days of age with severe global hypotonia, poor feeding, failure to thrive, signs of dehydration, and lethargy.[] Case presentation: case 1 Patient 1 was a term male infant with global hypotonia, bell-shaped chest, and metaphyseal irregularities ( Fig. 1 ) that led to an initial clinical[]

  • Generalized Clonic or Tonic-Clonic Seizures

    […] developmental delay Generalized hypotonia SOURCES: ORPHANET OMIM ICD10 NCIT MONDO More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1 Top 5 symptoms//phenotypes associated[] […] seizures Pica Epileptic spasms EEG with irregular generalized spike and wave complexes Enhancement of the C-reflex Dysphagia Urinary bladder sphincter dysfunction Severe global[] Tetraplegia Neurodegeneration Spastic tetraplegia Epileptic encephalopathy Intellectual disability, profound Status epilepticus Hypoplasia of the corpus callosum Muscular hypotonia[]

  • Benign Familial Infantile Epilepsy

    […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[] Clinical features: Triad: Myoclonic jerks Erratic, fragmented, random, asynchronous, asymmetric Massive axial bilateral myoclonus Focal seizures Tonic seizures Encephalopathy, global[]

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