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33 Possible Causes for Gait Ataxia, Hepatomegaly, Postural Defect

  • Hyperammonemia Type 3

    A congenital form occurs in two types: Type 1, due to deficiency of the enzyme ornithine carbamoyltransferase, is marked by vomiting, lethargy, coma, and hepatomegaly; symptoms[medical-dictionary.thefreedictionary.com] Above 1000 µmol/L: About 50% survive Ammonia levels seen in inborn errors of metabolism: Urea cycle defects: 500 to 2000 µmol/L Organic acidemia: 100 to 1000 µmol/L Transport[ebmconsult.com] Intermittent ataxia: unstable gait ,dysmetria. periodic ammonia Intellectual impairment: Episodic hyperammonemia may produce subtle intellectual deficits even in clinically[slideshare.net]

  • Homocystinuria

    Patients who become symptomatic beyond infancy may present with ataxia, dementia or psychosis.[orpha.net] […] inborn error of metabolism of sulfur amino acids due to lack of the enzyme cystathionine synthase; it is characterized by homocystine in the urine and by mental retardation, hepatomegaly[medical-dictionary.thefreedictionary.com] Many, if not all, patients have some type of hepatic involvement which may produce mild hepatomegaly with imaging characteristics and/or biopsied pathology of fatty infiltration[cancertherapyadvisor.com]

  • Ataxia

    Consequently, patients may develop splenomegaly and hepatomegaly as well as ataxia.[pn.bmj.com] Cerebellar lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction[neuromuscular.wustl.edu] Here, we report two new cases of anti-Ca-associated autoimmune cerebellar ataxia. Patient 1 presented with dizziness and acute yet mild limb and gait ataxia.[ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] The abnormal gait is due to contractures of the ankles, knees and hips as well as leg spasticity and ataxia.[symptoma.com] Increased tone/spasticity, hyper- or hyporeflexia, abnormal gait or inability to walk, ataxia, incontinence, tremor, abnormal or absent speech, seizures, weak cry/poor feeding[ncbi.nlm.nih.gov]

  • Infantile Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[ncbi.nlm.nih.gov] Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] Unsteadiness of gait is the main symptom related to cerebellar dysfunction.[ncbi.nlm.nih.gov]

  • Ataxia Telangiectasia

    (NGS) was performed on an Iranian 5-year-old boy presented with truncal and limb ataxia, telangiectasia of the eye, Hodgkin lymphoma, hyper pigmentation, total alopecia, hepatomegaly[ncbi.nlm.nih.gov] Defects in speech Spider-like veins visible along the skin and eyes Recurrent lung, sinus, and ear infection Slow physical and sexual maturation How is Ataxia Telangiectasia[dovemed.com] Patient A-T210 showed mild chorea, dystonia, and gait ataxia, walked independently, and drove a car.[ncbi.nlm.nih.gov]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    Gait ataxia, dysarthria, dysmetria, nystagmus, muscle wasting and dystonia are seen in the late stages of the disease.[patient.info] Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] People with this type of ataxia share many characteristic symptoms including: frequent falls due to poor balance imprecise hand coordination postural or kinetic tremor of[en.wikipedia.org]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[ncbi.nlm.nih.gov] […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[ulf.org] ataxia caused by loss of proprioceptive sensation may mimick cerebellar ataxia.[jnnp.bmj.com]

  • Parkinson's Disease

    Neonates with 3-β-hydroxy-C 27 -steroid oxidoreductase deficiency show hepatomegaly, mild steatorrhea, elevated serum ALT and AST, hyperbilirubinemia, and normal serum γ-glutamyl[doi.org] Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability ( 1 ).[doi.org] Absence of rest tremor, early occurrence of gait difficulty, postural instability, dementia, hallucinations, and the presence of dysautonomia, ophthalmoparesis, ataxia and[ncbi.nlm.nih.gov]

  • Transient Hyperammonemia of the Newborn

    Intermittent ataxia: unstable gait ,dysmetria. periodic ammonia Intellectual impairment: Episodic hyperammonemia may produce subtle intellectual deficits even in clinically[slideshare.net] Infant becomes floppy, FTT, hepatomegaly, macroglossia at 1 month Noted cardiomegaly and hard muscles on exam Type 2 glycogen storage Pompe Diagnosis?[brainscape.com] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[pedclerk.bsd.uchicago.edu]

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