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11 Possible Causes for Focal Epileptiform Discharges, Limb Joint Contracture

  • Stroke

    […] disuse of the limb with the use of splints or other tools to stabilize the joint.[en.wikipedia.org] Ictal The presence of focal, rhythmic epileptiform discharges is the most characteristic feature of the scalp EEG in patients with focal seizures, showing spatial correlation[epilepsydiagnosis.org] The most common EEG pathology was focal slowing (30; 43.5%). No epileptiform potentials were found.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    […] stiffness Smooth philtrum Talipes Ventricular hypertrophy Limb undergrowth Small nail Joint contracture of the hand Cardiomegaly Thickened skin Short long bone Splenomegaly[mendelian.co] By increasing recording sensitivity, we detected focal epileptiform discharges of slow rhythmic sharp and slow waves building to 30 microV during suppression periods.[ncbi.nlm.nih.gov] Selective cognitive impairment during focal and generalized epileptiform EEG activity. Brain. 1984 Mar. 107 ( Pt 1):293-308. [Medline]. Binnie CD.[emedicine.medscape.com]

  • Persistent Vegetative State

    Limbs severely spastic and contractured, with flexion at the shoulder, elbow and wrist joints as well as rigid equinovarus positioning of the legs.[dx.doi.org]

  • Lethal Muscular Hypertonia

    joint contracture Proximal amyotrophy Bilateral talipes equinovarus Congenital muscular dystrophy Childhood onset Trophic changes related to pain Muscular dystrophy Elevated[mendelian.co] Seizures were myoclonic, refractory to treatment, and accompanied by apnea, bradycardia (Pt 2), and focal/multifocal epileptiform discharges. Microcephaly was severe.[pediatricneurologybriefs.com] […] weakness Distal amyotrophy Distal muscle weakness Neonatal hypotonia Tics Nemaline bodies Intellectual disability Respiratory insufficiency Left ventricular septal hypertrophy Limb[mendelian.co]

  • Infantile 3-Phosphoglycerate Dehydrogenase Deficiency

    Contractures: Distal Pes equinus Low body mass: Small muscles Muscle Scapular winging Respiratory insufficiency Axial: Neck & Trunk Limbs Swallowing: Normal Adult onset:[neuromuscular.wustl.edu] EG: increase in generalised or focal epileptiform discharges that improve after eating( Von Moers et al.2002). euroimaging: Normal. 18.[slideshare.net] : Spine Axial Mutation: Common leaky IVS splice site on one allele Onset age: 12 to 21 years Spine Rigid spine: Childhood onst; Incomplete Scoliosis Lumbar hyperlordosis Joints[neuromuscular.wustl.edu]

  • Pachygyria-Mental Retardation-Seizures

    Two had arthrogryposis multiplex congenita with severe contractures involving multiple proximal and distal joints; after surgical release procedures, they became ambulatory[vdocuments.mx] Inclusion criteria were: (1) Focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) Further... more Summary In this study, we describe[scinapse.io] Eleven of the patients had epileptiform discharges in their stan- dard EEGs (Table 3); 9 with distinct focality; 1 only during earlier years of active epilepsy (Patient 2)[documents.tips]

  • Mirhosseini-Holmes-Walton Syndrome

    joint contracture Abnormality of the upper urinary tract Primitive reflex Distal arthrogryposis Restlessness Skin rash Choanal atresia Finger syndactyly Anterior chamber[mendelian.co] discharges Astrocytosis Thick upper lip vermilion Shock Decreased muscle mass Diabetes insipidus Increased body weight Focal seizures with impairment of consciousness or[mendelian.co] […] syndrome Abnormality of the cerebellar vermis Abnormality of the penis Proximal placement of thumb Abnormality of the outer ear Congenital ptosis Colpocephaly Epispadias Limb[mendelian.co]

  • Craniosytosis Mental Retardation Syndrome of Lin and Gettig

    J Med Genet 25: 88, 1988 31 Rutledge JC, Friedman JM, Harrod MJ, et al: A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal[glowm.com] Focal or generalized epileptiform discharges were reported frequently.[thieme-connect.com] contractures, cerebellar hypoplasia, renal hypoplasia, ambiguous genitalia, urologic anomalies, tongue cysts, shortness of limbs, eye abnormalities, heart defects, gallbladder[glowm.com]

  • Musculocontractural Ehlers-Danlos Syndrome Type 2

    , multiple; Joint laxity, generalized; Joint dislocations, recurrent; Tendon abnormalities; [Spine]; Scoliosis; [Limbs]; Hypermobility of shoulders; [Hands]; Adducted thumbs[findzebra.com] EEG findings epileptiform discharges and slow intermittent rhythm with delta–theta waves.[zdoc.site] , bilateral; [Bladder]; Cystitis, recurrent (in some patients); Enlarged bladder (in some patients) SKELETAL: Mild osteopenia in childhood (in some patients); Congenital contractures[findzebra.com]

  • Wieacker-Wolff Syndrome

    […] distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency[mendelian.co] The longer the duration of epileptiform discharges the worse the neuropsychological outcome. Seizures are mainly nocturnal focal motor or generalized tonic–clonic.[doctiktak.com] LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs[mendelian.co]

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