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11 Possible Causes for Myoclonic Jerking, Prominent High Nasal Root

  • Angelman Syndrome

    In addition, there was improvement in the myoclonic jerks, sleep pattern, and developmental progress.[] nasal root. [5] The facial features are characteristic and include: Deep set eyes Strabismus Myopia Marked nasal root Broad and/or beaked nasal bridge Prominent Cupid's bow[] She was initially treated with vigabatrin which resulted in worsening of myoclonic jerks.[]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Presents as a sudden jerk followed by stiffening. juvenile myoclonic epilepsy This seizure disorder presents in adolescence with unilateral or bilateral myoclonic jerks, that[] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[] Narrow nose Scaphocephaly Aortic root aneurysm Increased body weight Arthrogryposis multiplex congenita Lipodystrophy Aortic aneurysm Mitral valve prolapse Oligohydramnios[]

  • Extrapyramidal Disorder

    […] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.[] Abnormal movements can include myoclonic jerks, tics, chorea, and dystonia.[] Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high[]

  • Pitt-Hopkins Syndrome

    He receives sodium valproate and clobazam for the myoclonic jerks with satisfactory results.[] As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[] PTHS can be seen as early as childhood.The earliest signs in infants is the lower face and the high nasal root.[]

  • Wolf Hirschhorn Syndrome

    Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[] jerks [ 5 ].[] jerks until the correct medications could be established.[]

  • Chromosome 17p13.1 Deletion Syndrome

    Perioral and eyelid myoclonic jerks may accompany these events.[] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[] […] nipples 0003186 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Knee flexion contracture 0006380 Long hallux Long big toe 0001847 Prominent[]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    , develop next. • EEG - characteristic pattern of periodic bursts of spike-wave complexes (approximately every 5–7 sec) occurring synchronously with the myoclonic jerk. •[] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[] Absence* may be typical (petit mal) -or Jiypkal and c n often be preci piloted by hyper ventilation Myoclonic seizures Brief, often repetitive., jerking movements of the limbs[]

  • Coffin-Siris Syndrome 2

    MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high[] At 26 months she developed repeated episodes of recurrent generalized convulsions, 3-5 times per day, each lasting up to 3 min, with associated myoclonic jerks in addition[] nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth.[]

  • Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome

    jerks Lafora bodies Giant somatosensory evoked potentials Joint hyperflexibility Ankyloblepharon Attention deficit hyperactivity disorder Melanoma Severe short stature Ranula[] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[] […] neuropathy Difficulty walking Gait ataxia Areflexia EEG with polyspike wave complexes Elevated serum creatine phosphokinase Tremor Peripheral neuropathy Scoliosis Morning myoclonic[]

  • MORM Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Reduced[] Myoclonic seizures (brief shock-like jerks of a muscle or group of muscles) appear between 1 and 5 years in 85% of children with Dravet syndrome.[] Characteristic facial features (high-arched or wave-shaped eyelids, thick hair, low hairline, short philtrum as well as long-thick eyelashes, prominent nasal root and upper[]

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