Presentation
We have also evaluated the involvement of GNE in several families from worldwide non-Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype. [ncbi.nlm.nih.gov]
Presentation [ 1, 9 ] Muscle weakness is the usual presenting feature. It usually presents after the age of 50. The distribution is variable and can be both proximal and distal. [patient.info]
Entire Body System
- Collapse
Light scattering experiments and electron microscopy revealed that mutant myosin heads bear a dramatic propensity to collapse and aggregate. Thus E706K (E701K) myosin appears far more labile than wild-type myosin. [ncbi.nlm.nih.gov]
Falls frequently occur in this population due to knee collapse or tripping due to foot drop or uneven surfaces. [dovepress.com]
Patients often complain of falls caused by their knees collapsing or due to the weakness in their legs: this weakness also causes major problems in getting out of a chair, getting up off of the floor, climbing stairs and stepping up onto curbs. [ibmmyositis.com]
- Hodgkin Lymphoma
Other less frequently reported cancers include colorectal cancer, non-Hodgkin lymphoma, pancreatic, gastric and bladder cancer. Cancer can be an underlying cause of dermatomyositis and may precede its onset. [understandingmyositis.org]
Polymyositis as a paraneoplastic syndrome in a case of non-Hodgkin lymphoma. Recenti Prog Med. 2003;94(4):166-71. Mackiewicz Z, Hukkanen M, Povilenaite D, Sukura A, Fonseca JE, Virtanen I, Konttinen YT. [malattierare.regione.veneto.it]
Respiratoric
- Pneumonia
Dysphagia is a progressive condition in patients with inclusion body myositis and often leads to death from aspiration pneumonia. [doi.org]
While sIBM is rarely considered a direct CoD, it is recognized that some deaths may be related to complications of the disease (e.g. pneumonia arising from dysphagia) [ 19, 20 ]. [content.iospress.com]
Some patients with swallowing difficulties die from aspiration pneumonia, caused when food or liquid enters the lungs. How common is IBM? IBM is a rare disease, and the exact prevalence of the disease is unknown. [cureibm.org]
Myositis - Home | Facebook https://www.facebook.com/Cureibm Cure IBM - Inclusion Body Myositis December 5, 2019 · Dysphagia, or difficulty swallowing, is an important complication of inclusion body myositis, leading to dehydration, malnutrition, aspiration pneumonia [vll.elementorweb.com]
- Respiratory Insufficiency
The third patient had developed pneumonia with respiratory insufficiency, and chose not to undergo further treatment for this infection; continuous deep sedation was applied. All three patients died within a day of the sedation being initiated. [doi.org]
Cause of death was disease-related (aspiration pneumonia and respiratory insufficiency) in 2 of 22 reported deaths. [64] In a 12-year follow-up study in the Netherlands, life expectancy was normal (81 years), although activities of daily living were restricted [emedicine.com]
Cardiovascular
- Hypertension
Cardiologic investigations revealed arterial hypertension, left anterior hemiblock, slight myocardial thickening, and surprisingly lone LVHT. [ncbi.nlm.nih.gov]
In this article a report of case is presented: A female patient 78 years old with previous history of type 2 diabetes mellitus, hypertension and hypothyroidism; with 18 months history of weakness in lower limbs, inability to climb stairs, limited to walk [scienceopen.com]
Hypertensive episodes were also observed in two placebo patients, under similar circumstances, although these cases did not require hospitalization. [doi.org]
Skin
- Skin Rash
When certain antibodies or a characteristic skin rash is present, a muscle biopsy may not be necessary. [understandingmyositis.org]
Polymyositis that does not respond to treatment is likely IBM.Dermatomyositis shares a number of similar physical symptoms and histopathological traits as polymyositis, but exhibits a skin rash not seen in polymyositis or sIBM. [en.wikipedia.org]
Also, I’m having skin rashes & dermatologist biopsy came back saying findings were consistent with DM. But again, would need a definitive skin biopsy to tell. [myositis.org]
In addition, the perivascular changes may be seen in patients without a skin rash, whereas endomysial infiltrates are occasionally seen in cases with a skin rash. [ibmmyositis.com]
- Erythema
It presents subacutely with muscle pain, weakness, and stiffness, and causes also a purple (heliotrope) discolorarion of the upper eyelids, edema around the eyes and mouth, facial erythema, and erythematous scaly papules over the knuckles and elbows [neuropathology-web.org]
Violaceous Erythema refers to a violet color rash, often in patches, as a result of injury, irritation, or inflammation causing dilation of the blood capillaries. [understandingmyositis.org]
- Cutaneous Manifestation
Cutaneous Manifestations of Dermatomyositis: a Comprehensive Review. Clin Rev Allergy Inmunol 2017; 53 (3):337-56. [ Links ] 18. Dalakas M, Hohlfeld R. Polymyositis and dermatomyositis. Lancet 2003; 362 (9388): 971-82. [ Links ] 19. [scielo.cl]
- Photosensitivity
Photosensitivity may require patients to avoid windows and commercial lighting, such as fluorescents. [understandingmyositis.org]
Neurologic
- Stroke
Follow 4 easy steps to help determine if a stroke is actually happening before your eyes. Kimberly's back pain story Targeted steroid injections handle nurse's back pain. [phoenixneurology.com]
Neurological Alliance Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. [ucl.ac.uk]
National Institute of Neurological Disorders and Stroke. Inclusion Body Myositis Information Page. July 27, 2015. Available at: http://www.ninds.nih.gov/disorders/inclusion_body_myositis/inclusion_body_myositis.htm Accessed June 21, 2016. [rarediseases.org]
This complaint did not receive much attention as the weakness was attributed by the patient and his GP to residual deficits from his stroke and other co-morbidities. [academic.oup.com]
- Waddling Gait
gait 32 hallmark (90%) HP:0002515 16 abnormality of calvarial morphology 32 occasional (7.5%) HP:0002648 17 pathologic fracture 32 very rare (1%) HP:0002756 18 osteolysis 32 frequent (33%) HP:0002797 19 urinary bladder sphincter dysfunction 32 occasional [malacards.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]
[This is not my website] Return to top Treatment: Summary: Based upon research, no treatment is recognized as effective for sIBM (as of 2017). [ibmmyositis.com]
Is there a treatment? Currently, there are no effective treatments for HIBM. Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. [hibm.org]
Management [ 1, 11 ] There is no effective treatment for the disease and few high-quality randomised controlled trials. [ 12 ] Treatment is challenging as the disease is typically resistant to standard immunotherapy. [patient.info]
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]
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]
Treatment and prognosis At the time of writing there is no definitive cure nor a standard course of treatment for Inclusion body myositis. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs 4. [radiopaedia.org]
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]
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]
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]
^ 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]
Summary Epidemiology IBM has a highly variable prevalence according to geographic, ethnic and age criteria. [orpha.net]
Interest has been stimulated by the finding that substances deposited in muscle are similar to those found in the brain in Alzheimer's disease - eg, amyloid precursor proteins. [ 7, 8 ] Epidemiology [ 1 ] Most cases present in patients aged over 50 years [patient.info]
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
Prevention of falls is an important consideration. [ibmmyositis.com]
Sidestep a headache Make the right lifestyle choices to prevent a headache that interferes with your life. Make it F.A.S.T. Follow 4 easy steps to help determine if a stroke is actually happening before your eyes. [phoenixneurology.com]
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]
[…] 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]