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114 Possible Causes for Cardiomyopathy, Severe Mental Retardation in Some Patients

  • Fabry Disease

    KEYWORDS: Fabry disease; cardiomyopathy, hypertrophic; gadolinium; magnetic resonance; mutation; phenotype; stroke[ncbi.nlm.nih.gov] patients, mental impairment [ 32 ].[ncbi.nlm.nih.gov] Fabry disease continues to be an important misdiagnosis of hypertrophic cardiomyopathy in a clinical setting.[ncbi.nlm.nih.gov]

  • Wolfram Syndrome

    We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities.[ncbi.nlm.nih.gov] We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications.[ncbi.nlm.nih.gov] Mezghani N , Mnif M , Mkaouar-Rebai E et al : The mitochondrial ND1 m.3337G A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy[nature.com]

  • Glycogen Storage Disease Type 2

    Some reported “intermediate” patients as having mental retardation, whereas others did not. 258 , 259 Individuals throughout the spectrum of phenotype severity have been reported[dx.doi.org] , lysosomal disease with hypertrophic cardiomyopathy, glycogen storage disease with hypertrophic cardiomyopathy, lysosomal glycogen storage disease Prende il nome da Johannes[commons.wikimedia.org] If left untreated, affected infants often die from hypertrophic cardiomyopathy during their first year of life.[symptoma.com]

  • Congenital Muscular Dystrophy

    […] calf hypertrophy, microcephaly, and mental retardation.[ncbi.nlm.nih.gov] cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] mental retardation and epilepsy are extremely frequent.[healio.com]

  • Cardiac Dilatation

    What is cardiomyopathy? Cardiomyopathy means a condition caused by a problem with the heart muscle.[patient.info] patients Mental retardation: Mild Seizures: Occasional patient Systemic Testicular dysgenesis: Cryptorchidism to severe perineal hypospadias Growth failure (100%) Skeletal[neuromuscular.wustl.edu] Other Names for Dilated Cardiomyopathy Alcoholic cardiomyopathy.[heart.org]

  • Danon Disease

    KEYWORDS: Cardiomyopathy; Danon disease; Female carriers; LAMP2; X-chromosome inactivation[ncbi.nlm.nih.gov] patients, mental impairment [ 32 ].[ojrd.biomedcentral.com] It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability.[ncbi.nlm.nih.gov]

  • Cri Du Chat Syndrome

    All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded.[ncbi.nlm.nih.gov] Comparing their phenotype at several ages, a change of their phenotype was noted.[ncbi.nlm.nih.gov] The diagnosis was difficult to make in some of the patients who were first seen at an older age.[ncbi.nlm.nih.gov]

  • Lethal Infantile Mitochondrial Myopathy

    MYTH An individual with mitochondrial disease has mental retardation, growth problems, and/or seizures. FACT Only some individuals have these developmental problems.[my.clevelandclinic.org] Mitochondrial Cardiomyopathy Pediatric Cardiology. 16(1): 28-30 1995 An adolescent with mitochondrial cardiomyopathy is described.[eurekamag.com] The term “idiopathic cardiomyopathy” is therefore often used to describe primary myocardial disease.[nejm.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

    Additionally in recent years several data have implicated minor mutations in this gene region in some patients with mental retardation (MR).[connection.ebscohost.com] Disease Type of connection Familial isolated dilated cardiomyopathy Autosomal recessive centronuclear myopathy Early-onset myopathy with fatal cardiomyopathy Familial isolated[csbg.cnb.csic.es] الصفحة 214 - Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, deltasarcoglycan, in hamster: An animal model of disrupted dystrophin-associated[books.google.com]

  • Ataxia

    […] have seizures and mild mental retardation.[pn.bmj.com] Elliott P, McKenna WJ (2004) Hypertrophic cardiomyopathy. Lancet 363:1881–1891 CrossRef PubMed Google Scholar 27.[link.springer.com] Idebenone is more effective than placebo for halting and reversing the hypertrophic cardiomyopathy associated with FA, but it seems unable to improve neurological semiology[ncbi.nlm.nih.gov]

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