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106 Possible Causes for Myopathic Facies

  • Facioscapulohumeral Muscular Dystrophy

    facies, eyelids that remain partly open in sleep, and inability to whistle or to purse the lips (tapir mouth).[whonamedit.com] Begins with weakness of the muscles of the face and shoulder girdle, causing inability to raise the arms above the head (in female, noticed while combing hair), myopathic[whonamedit.com]

  • Secondary Myopathy

    Refractory Acute Kidney Injury Secondary to Hypothyroid-Induced Myopathy: A Contemporary Case Report Abstract This is a case report elucidating how severe hypothyroid-induced myopathy can lead to refractory kidney injury, unmanageable by standard medical and hemodialysis interventions. A 70-year-old female[…][journalmc.org]

  • Myasthenia Gravis

    Myasthenia gravis is a rare autoimmune disorder of the neuromuscular junction characterized by varying degrees of weakness of the voluntary muscles. Myasthenia gravis affects children and neonates as well as adults. There will be weakness noticed in children too. There might be a weak cry and difficult movement[…][symptoma.com]

  • Lambert Eaton Myasthenic Syndrome

    Lambert-Eaton myasthenic syndrome (LEMS) is an idiopathic or paraneoplastic syndrome producing antibodies against presynaptic voltage-gated P/Q calcium channels. This decreases calcium entry into the presynaptic terminal, which prevents binding of vesicles to the presynaptic membrane and acetylcholine release. LEMS[…][ncbi.nlm.nih.gov]

  • Psychomotor Retardation

    facies, high T3, low T4 and rT3, and normal/mildly elevated TSH levels.[ncbi.nlm.nih.gov] […] typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic[ncbi.nlm.nih.gov]

  • Myosin Storage Myopathy

    […] abnormalities ; Elevated serum creatine phosphokinase ; High palate ; Hypertrophic cardiomyopathy ; Myopathic facies ; Respiratory insufficiency ; Scapuloperoneal amyotrophy[mousephenotype.org] facies 0002058 Scoliosis Abnormal curving of the spine 0002650 Percent of people who have these symptoms is not available through HPO Abnormality of the cardiovascular system[rarediseases.info.nih.gov] […] genetic, neurological Phenotypes Autosomal recessive inheritance ; Centrally nucleated skeletal muscle fibers ; Congestive heart failure ; Dilated cardiomyopathy ; EMG: myopathic[mousephenotype.org]

  • Allan-Herndon-Dudley Syndrome

    Some patients have myopathic facies.[ncbi.nlm.nih.gov] facies 2-3 toe syndactyly Bruxism Congenital hypothyroidism Central nervous system degeneration Need help with a diagnosis?[mendelian.co] […] hair quantity Generalized tonic-clonic seizures Postnatal microcephaly Choanal atresia Stereotypy Drooling Coarse hair Widely spaced teeth Broad-based gait Bilateral ptosis Myopathic[mendelian.co]

  • Muscular Dystrophy

    The characteristic facies is caused by weakness and wasting of the facial, levator palpebrae and masticatory muscles giving rise to ptosis and the typical myopathic or ‘hatchet[doi.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E

    facies 0002058 Myopathy Muscle tissue disease 0003198 Pelvic girdle muscle weakness 0003749 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people[rarediseases.info.nih.gov] […] serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Gowers sign 0003391 Increased variability in muscle fiber diameter 0003557 Myopathic[rarediseases.info.nih.gov]

  • Multicore Myopathy

    facies ; Nemaline bodies ; Neonatal hypotonia ; Neonatal onset ; Phenotypic variability ; Polyhydramnios ; Proximal muscle weakness ; Ptosis ; Pulmonary hypoplasia ; Recurrent[mousephenotype.org] facies Increased variability in muscle fiber diameter Open mouth Long face Plantar flexion contractures Need help with a diagnosis?[mendelian.co] facies (open mouth with tented upper lip, poor lip seal when sucking, lack of facial expression, ptosis and restricted ocular movements) • Muscle fasciculation 18.[slideshare.net]

Further symptoms