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Inclusion Body Myopathy

IBM


Presentation

  • In normal muscle, TDP-43 is present in nuclei. In IBMPFD muscle, TDP-43 is additionally present as large inclusions within UBIs in muscle cytoplasm. TDP-43 inclusions were also found in 78% of sporadic inclusion body myositis (sIBM) muscles.[ncbi.nlm.nih.gov]
Plethora
  • VCP, a member of the AAA-ATPase gene family, associates with a plethora of protein adaptors to perform a variety of cellular processes including Golgi assembly/disassembly and regulation of the ubiquitin-proteasome system.[ncbi.nlm.nih.gov]
Sleep Apnea
  • Consultation with a pulmonologist to evaluate for nocturnal hypoventilation or sleep apnea may be considered in symptomatic individuals. All affected individuals should consult their physician before beginning an exercise program.[ncbi.nlm.nih.gov]
Proximal Muscle Weakness
  • Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade.[ncbi.nlm.nih.gov]
Hearing Impairment
  • Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD.[ncbi.nlm.nih.gov]
Unable to Walk
  • Distal lower limb weakness was observed in four patients, who were unable to walk on their heels or on their toes (patient I-1, II-1, 3, 13). One patient (Patient I-1) had a distal upper limb weakness. Cranial nerve innervated muscles were spared.[journals.plos.org]

Treatment

  • CONCLUSION: The mild benefits in muscle strength experienced by HIBM patients after IVIG treatment may be related to the provision of sialic acid supplied by IVIG. Other sources of sialic acid are being explored as treatment options for HIBM.[ncbi.nlm.nih.gov]
  • Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2. [2] Treatment is focused on managing individual symptoms.[rarediseases.info.nih.gov]
  • An improvement in muscle strength or alpha-DG sialylation will prompt a controlled trial of the efficacy of this treatment.[clinicaltrials.gov]
  • The study was powered to capture 10% increase strength 6 months after treatment.[scienceopen.com]

Prognosis

  • Prognosis - Inclusion body myopathy- 2 autosomal recessive Prognosis of Inclusion body myopathy, 2 autosomal recessive: severe disability usually occurs in 10 to 20 years.The \'prognosis\' of Inclusion body myopathy, 2 autosomal recessive usually refers[checkorphan.org]
  • Progressive dysphagia is associated with a poorer prognosis and a poorer quality of life.[patient.info]
  • Disease progression, prognosis and treatment Older individuals progress at a rate much faster than those who develop symptoms at a younger age [ 18 ].[academic.oup.com]
  • Prognosis After 5 years, most patients require a walking aid and after 10, a wheelchair. No change in mean life expectancy has been observed. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.[ncbi.nlm.nih.gov]
  • Etiology Etiology of IBM is poorly understood. No causal gene has been identified but HLA-DR3 and 8-1 MHC genotypes have been shown to correlate with IBM susceptibility. Ageing and environmental factors are also surmised to play a triggering role.[orpha.net]
  • Electromyography of affected muscles have been interpreted to indicate chronic denervation/reinervation, implying a neurogenetic etiology ( 5 ), as well as a primary myopathic process ( 5 , 6 ).[hmg.oxfordjournals.org]
  • Inclusion-body myositis and myopathies: difficult etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol. 2002;15:525-531. INTERNET Periquet IM. Collins MP. Barkhaus PE. Inclusion body myositis. Medscape. Last Update May 6, 2016.[rarediseases.org]
  • Carrillo N, Malicdan MC, Huizing M (2018) GNE myopathy: Etiology, diagnosis, and therapeutic challenges. Neurotherapeutics doi: 10.1007/s13311-018-0671-y "Inclusion body myopathy 3" . NIH Genetic and Rare Diseases Information Center .[en.wikipedia.org]

Epidemiology

  • The recent identification of the gene responsible for this myopathy and the common "Persian Jewish mutation" (M712T) enabled the re-evaluation of atypical phenotypes and the epidemiology of HIBM in various communities in the Middle East.[ncbi.nlm.nih.gov]
  • The recent identification of the gene responsible for this myopathy and the common “Persian Jewish mutation” (M712T) enabled the re-evaluation of atypical phenotypes and the epidemiology of HIBM in various communities in the Middle East.[n.neurology.org]
  • Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology 2000 ; 55 : 1385 –8. 11. , Engel AG, Nishino H et al. Inclusion body myositis. Observations in 40 patients.[academic.oup.com]
  • Summary Epidemiology IBM has a highly variable prevalence according to geographic, ethnic and age criteria.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • The generation of HIBM animal models has led to novel insights into both the disease and the role of GNE/MNK in pathophysiology.[ncbi.nlm.nih.gov]
  • Future research should continue to focus on improving understanding of the pathophysiological mechanisms of the disease and on the identification of reliable and sensitive outcome measures for clinical trials.[doi.org]

Prevention

  • […] muscle weakness * Pelvic girdle muscle weakness * Arm muscle wasting * Shoulder girdle muscle wasting * Leg muscle wasting * Pelvic girdle muscle wasting * Walking difficult Causes - Inclusion body myopathy- 2 autosomal recessive Leg muscle wasting Prevention[checkorphan.org]
  • Prevention of falls is an important consideration.[ibmmyositis.com]
  • Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2. [2] Treatment is focused on managing individual symptoms.[rarediseases.info.nih.gov]
  • Determining the molecular details of hnRNP aggregation is a critical enabling step in the design of therapies to block the formation of aggregates and prevent disease, for example the design of aggregate assays to screen potential therapeutics.[lifespan.org]

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