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]

• 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]

• Neck Flexor Muscle Weakness

  Five patients (patient II-7, 17, 19, 23, III-14) were unaware of limb muscle weakness, but examination revealed weakness of hip flexors. Patient III-3 denied any muscle weakness, however, examination revealed the neck flexor weakness. [journals.plos.org]

• 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]

• Hyponatremia

  Transient low-grade fever, myalgia, tachycardia, transaminase elevation, hyponatremia, and hypotension were observed after infusion of each dose of GNE gene lipoplex. [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]

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]

Related: Pulled upper back muscle: Causes, symptoms, treatment, and exercises [belmarrahealth.com]

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]

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]

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]

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]

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]

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]

Summary Epidemiology IBM has a highly variable prevalence according to geographic, ethnic and age criteria. [orpha.net]

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 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]

[…] 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]

All these factors are being studied so inflammatory myopathies like IBM can someday be better understood, treated or perhaps prevented entirely. [mda.org]