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401 Possible Causes for Mild to Severe Myopathy

  • Muscular Dystrophy

    Cardiomyopathy may be present as well, and it may be severe with only a mild myopathy. This phenotype is more common with EMD2.[] This is based on the finding of severe Bethlem myopathy patients and mild Ullrich congenital muscular dystrophy patients with a great deal of clinical similarity.[] However, Ullrich congenital muscular dystrophy and Bethlem myopathy are likely 2 ends of a spectrum of collagen type VI diseases.[]

  • Dilated Cardiomyopathy Type 2B

    […] and other dominant mutations results in a mild, late onset form of distal (tibial) myopathy.3,4 Furthermore myotilin mutations have now been demonstrated in myofibrillar[] Whereas homozygous mutation of the titin gene result in the autosomal recessive, severe, early onset 2J form of limb-girdle muscular dystrophy, heterozygosity for the same[] […] myopathy, or desmin-related myopathy, as well as in LGMD1A.5 These observations and several other examples in the text raise fundamental questions: how do we explain the very[]

  • Myositis

    They can be mild, moderate or severe.[] These problems can range from stiffness to weakness, and they can be mild, moderate or severe.[] Myopathies are diseases that cause problems with the muscles that control voluntary movements (muscles you can control).[]

  • Benign Adult Familial Myoclonic Epilepsy

    ( 2 Files ) Disease name : Collagen VI-related myopathy ICD 10: G71 Synonyms/Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate[] : Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy Cornelia-de-Lange Syndrom ( 1 Files ) Erkrankung[] […] with heterogeneous inheritance), hypertrophic neuropathy of infancy, Peroneal muscular atrophy (axonal type) (hypertrophic type), Roussy-Lévy syndrome Collagen VI-related Myopathie[]

  • Subarachnoid Hemorrhage

    ); (4) kidney insufficiency; (5) pregnancy or lactation; (6) 72 hours after SAH; (7) if death appeared imminent TCD vasospasm, distinguished in mild, moderate, and severe[] […] and/or statins; (3) contraindication for simvastatin (active liver disease, liver alanine aminotransferase or aspartate aminotransferase 3 times the normal upper limit, myopathy[]

  • Familial Recurrent Peripheral Facial Palsy

    […] disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intermediate DEND syndrome Intermediate nemaline myopathy Intermediate severe Salla[] […] speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly syndrome Intellectual[] Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe[]

  • Chudley-Rozdilsky Syndrome

    […] stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness,[] […] following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3068Disease definitionIntellectual disability-myopathy-short[] […] bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism).[]

  • Thyrotoxicosis Factitia

    This is a decompensated form of severe thyrotoxicosis that is an uncommon, but life-threatening condition.[] The most common cause of thyrotoxicosis in this population is a toxic multinodular goiter with mild thyrotoxicosis.[] Most patients will have weight loss, evidence of cardiomyopathy, myopathy and may have atrial fibrillation, congestive heart failure, cardiomegaly and muscle weakness.[]

  • Coronary Cataract

    Patients present with variable facial weakness, ranging from mild forms to severe progressive ophthalmoplegia associated with facial, pharyngeal, and limb muscle involvement[] Familial mitochondrial myopathy should be differentiated from DM.[] Biopsies of skeletal muscles indicate myopathy, and histochemistry and electron microscopy reveal abnormal mitochondria in type I fibers.[]

  • Lyme Carditis

    For Lyme-related meningitis, expected symptoms may include severe headache, neck pain and stiffness but on occasional include signs consistent with mild encephalopathy.[] More rarely encountered early neurological involvement includes transverse myelitis, encephalitis and inflammatory myopathy.[]

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