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29 Possible Causes for Hepatomegaly, Hyporeflexia, Postural Defect

  • Amyloidosis

    Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level.[] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[] […] that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly[]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[] We report the case of a 6-year-old boy who presented with developmental delay, ataxia, hypotonia, areflexia, vision and hearing impairment, dysmorphism, and hepatomegaly.[]

  • 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[] She had arthrogryposis and hyporeflexia.[] Increased tone/spasticity, hyper- or hyporeflexia, abnormal gait or inability to walk, ataxia, incontinence, tremor, abnormal or absent speech, seizures, weak cry/poor feeding[]

  • Infantile Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] Postural unsteadiness is evident when patients begin walking.[] […] pigmentosa) ,anosmia,deafness, ataxia, peripheral neuropathy, ichthyosis and cardiac arrhythmias. zelweger beginis in infancy and has a more symptoms:hypotonia, seizures, hyporeflexia[]

  • Combined Oxidative Phosphorylation Defect Type 11

    : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Tongue fasciculations Abnormality of the abdomen Decreased liver function Feeding difficulties Hepatomegaly[] Treacher-Collins syndrome X-linked Charcot-Marie-Tooth disease type 4 X-linked Emery-Dreifuss muscular dystrophy X-linked myopathy with postural muscle atrophy Synonym(s)[] […] atrophy Nystagmus Hypoplasia of the corpus callosum Blindness Clonus Death in infancy Hypertrophic cardiomyopathy Athetosis Myoclonus Spastic tetraplegia Infantile onset Hepatomegaly[]

  • Inherited Congenital Spastic Tetraplegia

    […] leukoencephalopathy Rieger anomaly Right hemiplegia Retinal arterial tortuosity Heterogeneous Respiratory distress Kyphosis Hypertension Polycoria Posterior leukoencephalopathy Hepatomegaly[] […] resulting from defects in the developing central nervous system.[] […] signs and symptoms that you may find interesting Melanoma and Decreased body weight, related diseases and genetic alterations Delayed speech and language development and Hyporeflexia[]

  • Acute Pandysautonomia

    The presence of lymphadenopathy, hepatomegaly or splenomegaly, and skin lesions may provide evidence of systemic disease.[] However, the following have been identified and may be involved: Single gene defects. Accumulation of toxins. Autoantibodies.[] Loss of function “- symptoms” Disordered function “ symptoms” Sensory “Large Fiber” Vibration Proprioception Hyporeflexia Sensory ataxia Paresthesias Sensory “Small Fiber”[]

  • Acroosteolysis Dominant Type

    […] skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Hepatomegaly[] There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present.[] […] temperature, position, touch); Lower limbs more affected than upper limbs; Trunk may be involved later; Decreased taste sensation; Impaired corneal reflex; Impaired gag reflex; Hyporeflexia[]

  • X-Linked Reducing-Body Myopathy 1A

    Diabetes mellitus Cardiac arrhythmias Acid maltase deficiency or glycogen storage disorder type 2 Approximately 1 in 40,000 newborns Proximal girdle weakness Macroglossia, hepatomegaly[] Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696].[]

  • Ataxia

    Consequently, patients may develop splenomegaly and hepatomegaly as well as ataxia.[] Cerebellar lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction[] Other symptoms include impaired reflexes (hyporeflexia) and a loss of spatial awareness and sensation (temperature, touch, etc.), above all in the legs.[]

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