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718 Possible Causes for Apathy, Autosomal Recessive

  • Hemochromatosis

    General symptoms comprise chronic fatigue, weakness, lethargy, and apathy.[] Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] Clinical Symptoms and Physical Manifestations in Patients with Hereditary Hemochromatosis Abdominal pain Amenorrhea Apathy Arthralgias Ascites Cardiomyopathy Cirrhosis Congestive[]

  • Tay-Sachs Disease

    Other features include apathy, uncontrollable seizures, spasticity and dementia. Death follows in the second or third year of life.[] Several deleterious and lethal autosomal recessive genes appear to exist in equilibrium with their normal alleles at a variety of stable, or near stable frequencies of considerable[] Other features include apathy, uncontrollable seizures , spasticity and dementia . Death follows in the second or third year of life.[]

  • Adenosine Deaminase Deficiency

    ADA deficiency is inherited in an autosomal recessive manner.[] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[] Abstract Adenosine deaminase (ADA) deficiency is an autosomal recessive disorder resulting in immunodeficiency.[]

  • Severe Combined Immunodeficiency

    A single family with an autosomal recessive form of OFCS and a homozygous missense mutation in PAX1 gene has been described.[] Although the X-linked recessive form is most common (60-70%), there are autosomal recessive forms (20%) and spontaneous mutations.[] We discuss how the identification of mutations of Jak3 in autosomal recessive SCID has facilitated the diagnosis of these disorders, offered new insights into the biology[]

  • Parkinson's Disease

    Apathy was identified in 31.6%; apathy without depression was present in 33.3% of patients.[] Autosomal recessive juvenile parkinsonism (AR-JP) maps to the long arm of chromosome 6 (6q25.2-q27) and is linked strongly to the markers D6S305 and D6S253; the former is[] The 40 cases of MSA consisted of 8 autosomal dominant, 2 autosomal recessive, and 30 sporadic forms.[]

  • Parkinson's Disease Type 3

    Women are more likely to present with tremor or to develop apathy, anxiety, depression, or LID.[] 12 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE[] Apathy is a common development in both diseases, and so is depression.[]

  • Iron Deficiency Anemia

    In addition, children may experience apathy and failure to thrive, and macrocytic anemia is a common feature at all ages.[] Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[] Abstract Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation[]

  • Anemia

    Fatigue, sleepiness, slowing of speech, in addition to a lack of interest in personal relationships and general apathy, are signs of depression and hypothyroidism.[] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[] Transmittance is autosomal recessive inheritance of abnormal GIF on chromosome arm 11q13.[]

  • Hypoglycemia

    Feeling of numbness, pins and needles (paresthesia) Negativism, irritability, belligerence, combativeness, rage Personality change, emotional lability Fatigue, weakness, apathy[] Most of these defects are autosomal recessive, but some are autosomal dominant.[] recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites[]

  • Binswanger Disease

    Patients with this disease usually present with apathy, agitation, and bilateral corticospinal or bulbar signs Tags: binswanger' , s-disease , subcortical-dementia , white-matter-atrophy[] Signs and Symptoms Nystagmus Abnormality of extrapyramidal motor function Alopecia Arteriosclerosis of small cerebral arteries Ataxia Autosomal recessive inheritance Babinski[] […] the forgetfulness of Alzheimer's disease), changes in speech, an unsteady gait, clumsiness or frequent falls, changes in personality or mood (most likely in the form of apathy[]

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