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5 Possible Causes for Cardiomegaly Type 2 - Infantile

  • Distal Spinal Muscular Atrophy Type 3

    Glycogen Storage Disease Type II Classic infantile-onset disease may present with features such as generalized muscle weakness, hypotonia,, cardiomegaly as well as hypertrophic[explainmedicine.com] […] cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where the progressive bulbar involvement causes bulbar symptoms such as dysarthria and dysphagia.[2][explainmedicine.com]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    Glycogen Storage Disease Type II Classic infantile-onset disease may present with features such as generalized muscle weakness, hypotonia, , cardiomegaly as well as hypertrophic[explainmedicine.com] […] cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where the progressive bulbar involvement causes bulbar symptoms such as dysarthria and dysphagia.[2][explainmedicine.com]

  • Glycogen Storage Disease Type 2

    There are currently thought to be 2 main types of Pompe disease: Infantile Classic infantile Pompe is the most severe end of the spectrum with rapidly progressive cardiomegaly[cuh.nhs.uk]

  • Neuraminidase 1 Deficiency

    Definition Neuraminidase deficiency, or sialidosis, is a rare inherited metabolic disorder with multiple symptoms that can include skeletal abnormalities and progressive neurological degeneration. Description Nomenclature Neuraminidase deficiency is caused by a mutation, or change, in the NEU1 gene that codes for the[…][encyclopedia.com]

  • Autosomal Dominant Benign Spinal Muscular Atrophy

    Glycogen Storage Disease Type II Classic infantile-onset disease may present with features such as generalized muscle weakness, hypotonia,, cardiomegaly as well as hypertrophic[explainmedicine.com] […] cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where the progressive bulbar involvement causes bulbar symptoms such as dysarthria and dysphagia.[2][explainmedicine.com]

Further symptoms