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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[] patients, mental impairment [ 32 ].[] Fabry disease continues to be an important misdiagnosis of hypertrophic cardiomyopathy in a clinical setting.[]

  • Wolfram Syndrome

    We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities.[] We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications.[] 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[]

  • 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[] , lysosomal disease with hypertrophic cardiomyopathy, glycogen storage disease with hypertrophic cardiomyopathy, lysosomal glycogen storage disease Prende il nome da Johannes[] If left untreated, affected infants often die from hypertrophic cardiomyopathy during their first year of life.[]

  • Congenital Muscular Dystrophy

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

  • Cardiac Dilatation

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

  • Danon Disease

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

  • Cri Du Chat Syndrome

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

  • 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.[] Mitochondrial Cardiomyopathy Pediatric Cardiology. 16(1): 28-30 1995 An adolescent with mitochondrial cardiomyopathy is described.[] The term “idiopathic cardiomyopathy” is therefore often used to describe primary myocardial disease.[]

  • 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).[] Disease Type of connection Familial isolated dilated cardiomyopathy Autosomal recessive centronuclear myopathy Early-onset myopathy with fatal cardiomyopathy Familial isolated[] 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[]

  • Ataxia

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

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