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69 Possible Causes for Absent Ankle Reflex, Porencephaly

  • Guillain-Barré Syndrome

    […] rubra pilaris familial polycythemia , see Familial erythrocytosis familial polymorphic ventricular tachycardia , see Catecholaminergic polymorphic ventricular tachycardia Familial[herenciageneticayenfermedad.blogspot.com] F waves implicates nerve root involvement delayed/absent H reflex correlates with decreased/absent ankle reflex MRI cauda equina gandolinium enhancement in acute cases DIfferential[step2.medbullets.com] porencephaly familial pressure sensitive neuropathy , see Hereditary neuropathy with liability to pressure palsies familial primary aldosteronism , see Familial hyperaldosteronism[herenciageneticayenfermedad.blogspot.com]

  • Motor Neuron Disease

    In the past decade, hereditary forms of motor neuron disease (spinal muscular atrophy and/or amyotrophic lateral sclerosis) are increasingly identified. As advanced genetic testing is performed, molecular diagnosis can be obtained. Identifying new gene mutations can lead to further understanding of disease. We[…][ncbi.nlm.nih.gov]

  • Infantile Hemiplegia

    LeCount ER, Semerak CB: Porencephaly. Arch Neurol 14 : 365, 1925 Google Scholar 13. Baef RW: Clinical features of porencephaly.[link.springer.com] reflexes). sup reflexes: abd and cremasteric reflexes are lost on the paralysed side. pathological deep reflexes (normally absent) mb : finger reflex, patellar r, adductor[quizlet.com] […] with an uncommon form of startle-induced seizures, illustrated on video-EEG, against the background of left infantile hemiplegia associated with extensive right hemispheric porencephaly[ncbi.nlm.nih.gov]

  • Aprosencephaly and Cerebellar Dysgenesis

    ankle jerk reflexes, 100%  absent knee jerks, 85%  areflexia, 25%  extensor planter 20%  no opthalmoplegia  onset fourth or fifth decade  anticipation ?[slideshare.net] […] brain anomalies Multiple congenital cerebral cysts Muscle eye brain disease Nodular heterotopia Olivary heterotopia Olive dysplasia Partial absence of septum pellucidum Porencephaly[icd9data.com] […] of cerebral meninges Congenital cerebellar cortical atrophy Congenital cerebral cyst Congenital choroid plexus cyst Congenital malformation of corpus callosum Congenital porencephaly[emedcodes.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    porencephaly Glycogen storage disease due to liver phosphorylase kinase deficiency Hepatic veno-occlusive disease - immunodeficiency Hereditary nonpolyposis colon cancer[csbg.cnb.csic.es] […] or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.[orpha.net] […] afibrinogenemia Familial dysfibrinogenemia Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial isolated dilated cardiomyopathy Familial multinodular goiter Familial[csbg.cnb.csic.es]

  • Autosomal Dominant Rhegmatogenous Retinal Detachment

    […] jerk reflexes N, or reduced in minority Often reduced Reduced or absent Usually N N Pes cavus No Yes Yes No No Cranial nerves / SN deafness / SN deafness No Reduced sensation[academic.oup.com] […] syndrome 4 (EDS4) [MIM: 130050 ] Ehlers-Danlos syndrome 3 (EDS3) [MIM: 130020 ] COL4A1 P02462 pleiotropic Brain small vessel disease with hemorrhage (BSVDH) [MIM: 607595 ] Porencephaly[sbg.bio.ic.ac.uk] Yes Yes Yes Yes Mental retardation No No No Yes No Sensory loss SF, or SF LF SF LF SF LF SF Pain or No Motor signs Usually no Yes ( sensory) Yes (prominent, early) No No Ankle[academic.oup.com]

  • CANOMAD Syndrome

    Deep tendon reflexes, in the upper extremities, were reduced or absent in all patients. Knee and ankle reflexes were absent in one patient.[academic.oup.com] […] cerebellar vermis aplasiaColoboma hair alarnasal cartilages choroid retinaColoboma eye lensColoboma irisColoboma nasiColoboma maculaColoboma optic nerveColoboma papillaColoboma porencephaly[shecandothat.net] […] rheumatica Polyosteolysis-Hyperostosis Syndrome popliteal pterygium syndrome Porcine Postweaning Multisystemic Wasting Syndrome Porcine Reproductive and Respiratory Syndrome porencephaly[rgd.mcw.edu]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Reflexes are normal in approximately two thirds of patients. In one study, ankle jerks were absent in 37.5%, and areflexia occurred in 12.5%.[emedicine.medscape.com] TSEN54 Pontocerebellar hypoplasia type 6 RARS2 Pontocerebellar hypoplasia type 8 CHMP1A Pontocerebellar hypoplasia, type 9 AMPD2 Pontocerebellar hypoplasia, type 10 CLP1 Porencephaly[centogene.com] porencephaly Congenital laryngeal palsy Acrofrontofacionasal dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial[checkrare.com]

  • Inherited Congenital Spastic Tetraplegia

    […] myopathy COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly[genda.com.ar] The reflexes were all brisk but were absent at the ankles.[nejm.org] TSEN54 Pontocerebellar hypoplasia type 6 RARS2 Pontocerebellar hypoplasia type 8 CHMP1A Pontocerebellar hypoplasia, type 9 AMPD2 Pontocerebellar hypoplasia, type 10 CLP1 Porencephaly[centogene.com]

  • Myelocerebellar Disorder

    ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Prematurely aged appearance Combined immunodeficiency Asymmetry of the thorax Abnormality[mendelian.co] […] cardiomyopathy Familial mesial temporal lobe epilepsy with febrile seizures Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial partial epilepsy Familial[se-atlas.de] ankle jerk reflexes, 100%  absent knee jerks, 85%  areflexia, 25%  extensor planter 20%  no opthalmoplegia  onset fourth or fifth decade  anticipation ?[slideshare.net]

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