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1,474 Possible Causes for Broad-Based Gait, Cold-Induced Muscle Cramps, Optic Nerve Hypoplasia

  • Acute Cerebellar Ataxia

    […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] […] valproate therapy, cold exposure (carnitine palmitoyltransferase II (CPT II) deficiency or (3) both (LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD), and[neuroweb.us] […] acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies) or (2) normal muscle strength between attacks with episodes of acute, recurrent, reversible muscle[neuroweb.us]

    Missing: Optic Nerve Hypoplasia
  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , Aniridia, Optic nerve hypoplasia, Peters anomaly AD 144 550 PDYN Spinocerebellar ataxia AD 4 11 PEX7 Refsum disease, Rhizomelic CDP type 1 AR 44 53 PHYH Refsum disease AR[blueprintgenetics.com] There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements.[patient.info] […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us]

  • Optic Atrophy-Intellectual Disability Syndrome

    ", keywords "amblyopia, aplasia/hypoplasia of the optic nerve, cortical visual impairment, decreased CSF homovanillic acid (HVA), microretrognathia, optic disc hypoplasia,[mayoclinic.pure.elsevier.com] Manifestations include a wide mouth with protruding tongue and drooling, pulmonic stenosis, hyperventilation, a broad-based gait, severe intellectual disability and scoliosis[chginc.org] […] atrophy, optic nerve hypoplasia or cerebral visual impairment.[orpha.net]

    Missing: Cold-Induced Muscle Cramps
  • Cognitive Impairment with or without Cerebellar Ataxia

    The ataxia of cerebellar disease tends to produce a broad-based, lurching, reeling or drunken kind of gait. The ataxia often involves the trunk with titubation.[dartmouth.edu] […] dysfunction with exercise intolerance, cramps and acute painful rhabdomyolysis or myoglobinuria (with or without myalgia) induced by fever, fasting or prolonged exercise,[neuroweb.us] […] valproate therapy, cold exposure (carnitine palmitoyltransferase II (CPT II) deficiency or (3) both (LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD), and[neuroweb.us]

  • Syndromic Microphthalmia Type 10

    , retinal dystrophy, optic nerve hypoplasia, colobomas AD OTX2 #610125 SYNDROMIC MICROPHTHALMIA 6 Anophthalmia, microphthalmia AD BMP4 #607932 SYNDROMIC MICROPHTHALMIA 7 ([eyewiki.aao.org] Hypokinesia Overweight Downturned corners of mouth Retinal dystrophy Delayed myelination Generalized myoclonic seizures Tetraparesis Inability to walk Lower limb spasticity Broad-based[mendelian.co] , retinal dystrophy, optic nerve hypoplasia, colobomas/AD/OTX2/#610125 SYNDROMIC MICROPHTHALMIA 6/Anophthalmia, microphthalmia/AD/BMP4/#607932 SYNDROMIC MICROPHTHALMIA 7 ([eyewiki.org]

    Missing: Cold-Induced Muscle Cramps
  • Glaucoma

    nerve hypoplasia.[ncbi.nlm.nih.gov] […] or retinal dysplasia, retinal detachment, or optic nerve hypoplasia.[doi.org] The third patient's OCT showed global RNFL and macular thinning from optic nerve hypoplasia.[ncbi.nlm.nih.gov]

    Missing: Broad-Based Gait Cold-Induced Muscle Cramps
  • Acrootoocular Syndrome

    , retinal dystrophy, optic nerve hypoplasia, colobomas/AD/OTX2/#610125 SYNDROMIC MICROPHTHALMIA 6/Anophthalmia, microphthalmia/AD/BMP4/#607932 SYNDROMIC MICROPHTHALMIA 7 ([eyewiki.org] Patients often develop ataxia with broad-based gait in the first years of independent ambulation.[ojrd.biomedcentral.com] , retinal dystrophy, optic nerve hypoplasia, colobomas AD OTX2 #610125 SYNDROMIC MICROPHTHALMIA 6 Anophthalmia, microphthalmia AD BMP4 #607932 SYNDROMIC MICROPHTHALMIA 7 ([eyewiki.aao.org]

    Missing: Cold-Induced Muscle Cramps
  • Isolated Congenital Sclerocornea

    , retinal dystrophy, optic nerve hypoplasia, colobomas/AD/OTX2/#610125 SYNDROMIC MICROPHTHALMIA 6/Anophthalmia, microphthalmia/AD/BMP4/#607932 SYNDROMIC MICROPHTHALMIA 7 ([eyewiki.org] […] tremor Increased circulating gonadotropin level Cerebellar vermis atrophy High pitched voice Slurred speech Unilateral renal agenesis Ectopic kidney Sensory axonal neuropathy Broad-based[mendelian.co] , optic nerve hypoplasia, choroidal colobomas 4) others: Nystagmus, cognitive disabilities, secondary glaucoma Term what is the etiology for fuch's heterochromic iridocyclitis[flashcardmachine.com]

    Missing: Cold-Induced Muscle Cramps
  • Duchenne Muscular Dystrophy

    The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced[…][ncbi.nlm.nih.gov]

    Missing: Cold-Induced Muscle Cramps Optic Nerve Hypoplasia
  • Optic Atrophy

    NOTE: Optic nerve hypoplasia should not be confused with optic atrophy.[tsbvi.edu] Optic Nerve Hypoplasia: refers to underdevelopment of the optic nerve during pregnancy. Resources (1986).[tsbvi.edu] In addition, a bilateral asymmetrical optic nerve hypoplasia associated with right orbital bone hypoplasia was observed, suggesting the diagnosis of WF.[ncbi.nlm.nih.gov]

    Missing: Broad-Based Gait Cold-Induced Muscle Cramps

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