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1,131 Possible Causes for Inclusion Body Myopathy

  • Nemaline Myopathy

    Body Myopathy - ibm.yale.edu/ Kennedy’s Disease - kennedysdisease.org LGMD-1A (TTID) LGMD-1C (CAV3, Caveloin 3, Caveolinopathy, LQT9, VIP21) LGMD-1D (7q) LGMD-1E (6q23) LGMD[cmdir.org] Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle[ncbi.nlm.nih.gov] body myopathy type 4 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary late-onset Parkinson disease Hereditary motor and sensory neuropathy[se-atlas.de]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    Hereditary inclusion body myopathy Other names Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathies ( HIBM ) are a group of rare genetic disorders[en.wikipedia.org] Test Catalog Invitae Inclusion Body Myopathy Panel Test description The Invitae Inclusion Body Myopathy Panel analyzes up to five genes associated with inclusion body myopathy[invitae.com] : p62; TDP-43; BAG3 DNAJB6: Normal levels Hereditary Inclusion Body Myopathy (IBM1; HIBM1) : Dominant Desmin ; Chromosome 2q35; Dominant Nosology Originally identified as[neuromuscular.wustl.edu]

  • Distal Myopathy Type 3

    Alternative names include: Inclusion body myopathy, autosomal recessive; Inclusion body myopathy, quadriceps-sparing; QSM; Hereditary inclusion body myopathy; HIBM; Distal[ipfs.io] Hereditary inclusion body myopathy Other names Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathies ( HIBM ) are a group of rare genetic disorders[en.wikipedia.org] […] from hereditary inclusion body myopathy ; early adult onset type 2, or Miyoshi myopathy, with autosomal recessive inheritance linked to chromosome 2p12-p14; and early adult[doi.org]

  • Myositis

    Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: diseases of oxidative stress and aging?[academic.oup.com] Inclusion-Body Myositis (IBM) What is inclusion-body myositis (IBM)?[mda.org] There are two types: sporadic inclusion body myositis (sIBM) and hereditary inclusion body myopathy (hIBM).[patientslikeme.com]

  • Inclusion Body Myositis

    Abstract Muscle fibers in patients with sporadic inclusion-body myositis (s-IBM),the most common age-associated myopathy, are characterized by autophagic vacuoles and accumulation[ncbi.nlm.nih.gov] Distal myopathy with rimmed vacuoles, inclusion-body myositis and related disorders in Japan 16. Inclusion-body myopathies 17.[cambridge.org] Distal myopathy with rimmed vacuoles DMRV Hereditary inclusion body myopathy HIBM IBM2 Inclusion body myopathy, autosomal recessive Inclusion body myopathy, quadriceps-sparing[ghr.nlm.nih.gov]

  • Oculo-Pharyngo-Distal Myopathy

    The resemblances and the differences between the sporadic and the hereditary inclusion body myopathies are discussed.[journals.lww.com] Sporadic inclusion body myositis (IBM) • Myotonic dystrophy type 1 • Hyperthyroidism • Miyoshi's myopathy (dysferlinopathy) • Myofibrillar myopathies esp ZASPopathies • Emery-Dreifuss[quizlet.com] […] disorders (e.g. distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy, Miyoshi myopathy and limb-girdle muscular dystrophy with gene locus at 2p13).[journals.lww.com]

  • Inclusion Body Myopathy

    Abstract Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, quadriceps sparing type commonly referred to as HIBM but also termed h-IBM or Inclusion Body[ncbi.nlm.nih.gov] Distal myopathy with rimmed vacuoles DMRV Hereditary inclusion body myopathy HIBM IBM2 Inclusion body myopathy, autosomal recessive Inclusion body myopathy, quadriceps-sparing[ghr.nlm.nih.gov] Hereditary inclusion body myopathy Synonyms Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathies ( HIBM ) are a group of rare genetic disorders which[en.wikipedia.org]

  • Hyaline Body Myopathy

    Distal myopathy with rimmed vacuoles DMRV Hereditary inclusion body myopathy HIBM IBM2 Inclusion body myopathy, autosomal recessive Inclusion body myopathy, quadriceps-sparing[ghr.nlm.nih.gov] Hereditary inclusion body myopathy Other names Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathies ( HIBM ) are a group of rare genetic disorders[en.wikipedia.org] The MYH7 tail domain mutation results in an inclusion body myopathy with an apparent absence of hypertrophic cardiomyopathy usually associated with mutations of this gene.[ncbi.nlm.nih.gov]

  • Polyglucosan Body Myopathy Type 2

    Hereditary inclusion body myopathy Synonyms Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathies ( HIBM ) are a group of rare genetic disorders which[en.wikipedia.org] […] disease, and inclusion body myopathy associated with Paget disease of bone and/or frontotemporal dementia (IBMPFD).[blueprintgenetics.com] […] sbeck syndrome Inclusion body myopathy 2 Inclusion body myopathy 3 (IBM3) Infantile Neuroaxonal dystrophy 1 Infantile Neuronal Ceroid Lipofuscinosis (NCL) Infantile striatonigral[babygene.co.il]

  • Constipation

    Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are explored.[ncbi.nlm.nih.gov] Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter should be considered in the differential diagnosis of a patient presenting with severe anal[ncbi.nlm.nih.gov]

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