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113 Possible Causes for Hepatomegaly, Postural Defect, Tremor

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[elsevier.es] 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] Status of tremors, ability to perform daily tasks, serial physical examinations, and results of handwriting samples.[ncbi.nlm.nih.gov]

  • 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 ).[ncbi.nlm.nih.gov] Pallidotomy remains as a treatment option in Parkinson's disease (PD) with unilateral disabling dyskinesia and tremor, though deep brain stimulation of GPi and the other targets[ncbi.nlm.nih.gov]

  • 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] Ataxia, tremor, visual impairment, confusion and psychiatric symptoms may also be experienced.[symptoma.com]

  • Urea Cycle Disorder

    […] profile: Elevated plasma citrulline and glutamine, elevated urine argininosuccinate Clinical features: Episodic hyperammonemia, hepatic fibrosis, elevated liver enzymes, hepatomegaly[msdmanuals.com] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[pedclerk.bsd.uchicago.edu] Tremor and seizures may indicate cerebral edema and eventually, affected children may fall into a hyperammonemic coma.[symptoma.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] An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts.[ncbi.nlm.nih.gov]

  • Homocystinuria

    […] 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] Movement disorders such as dystonia, chorea or tremor are rarely encountered in patients with homocystinuria.[ncbi.nlm.nih.gov] 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]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    […] to a buildup of lactic acid in tissues (lactic acidosis), decreased muscle tone (hypotonia), extreme tiredness (lethargy), liver problems ranging from an enlarged liver (hepatomegaly[chginc.org] The term ataxia includes several abnormalities of voluntary movements: static (postural) tremor may also occur may cause arm instability and defective postural fixation at[slideshare.net] The book is divided into sections on Parkinson's disease, Huntington's disease, dystonia, tremor, paroxysmal movement disorders, ataxia, myoclonus, restless legs syndrome,[books.google.com]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    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] […] advisory boards of national foundations including the Worldwide Education and Awareness for Movement Disorders (WE MOVE), Dystonia Medical Research Foundation, International Tremor[books.google.com]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] The term ataxia includes several abnormalities of voluntary movements: static (postural) tremor may also occur may cause arm instability and defective postural fixation at[slideshare.net] Tremor in SCA-12 might respond to medications used for essential tremor. SCA12 is caused by a repeat expansion.[ataxiacenter.umn.edu]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    ., 2000 ), clinical features are distinct, with coarse facial features, corneal clouding, hepatomegaly, skeletal dysplasia, learning disability and myoclonus.[academic.oup.com] The term ataxia includes several abnormalities of voluntary movements: static (postural) tremor may also occur may cause arm instability and defective postural fixation at[slideshare.net] 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]

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