Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
עודכן לאחרונה 17 Jul 2023
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Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.
תיאור
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.
The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders, making it difficult to climb stairs and raise the arms above the shoulders. As the disorder progresses, weakness develops in other muscles in the arms and legs. Muscle weakness can also affect respiratory and heart (cardiac) muscles, leading to life-threatening breathing difficulties and heart failure.
About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder causes bones to grow larger and weaker than normal.Paget disease of bone most often affects bones of the hips, spine, and skull, and the long bones of the arms and legs. Bone pain, particularly in the hips and spine, is usually the major symptom of Paget disease. Other complications of Paget disease of bone depend on which bones are affected.Rarely, this condition can weaken bones so much that they break (fracture).
In about one-third of people with IBMPFD, the disorder also affects the brain. IBMPFD is associated with a brain condition called frontotemporal dementia, which becomes noticeable in a person's forties or fifties. People with frontotemporal dementia initially may have trouble speaking, remembering words and names (dysnomia), and using numbers (dyscalculia). Over time, the condition damages parts of the brain that control reasoning, personality, social skills, speech, and language. Personality changes, loss of judgement, and inappropriate social behaviour are also hallmarks of the disease. As the dementia worsens, affected people ultimately become unable to speak, read, or care for themselves.
Additional features that rarely occur in IBMPFD include a severe and progressive muscular disease called amyotrophic lateral sclerosis and progressive problems with movement and balance(Parkinson's disease).
People with IBMPFD usually live into their fifties or sixties.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
IBMPFD
Inclusion body myopathy with early-onset Paget disease of bone and/or frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
Lower motor neuron degeneration with Paget-like bone disease
Multisystem proteinopathy
Muscular dystrophy, limb-girdle, with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
Related patient information and medicines
Patient information leaflet
אובדן זיכרון ודמנציה
It can cause hallucinations, movement problems, and unpredictable changes in thinking and alertne... דמנציה פרונטוטמפורלית This is a type of דמנציה that causes the frontal and temporal lobes of the brain to shrink and stop working. It often causes problems with behaviour and language. The World Health Organization (WHO) tells us there are.
Patient information leaflet
גורמים לאובדן זיכרון ודמנציה
Rarely, dementia affects younger people. דמנציה is said ל be early-onset (or young-onset) if it comes on before the age of 65. There are some groups of people who are known to have a higher risk of developing dementia. These ... For example, stiffness, slowness of movement and a shuffling walk with difficulty in starting, stopping, and in.
Patient information leaflet
מחלת פאג'ט של העצם
Paget's disease of bone affects the structure of parts of one or more bones. In most cases it causes no symptoms and does not need treatment. Symptoms develop in some cases and pain in the affected part of bone is the most common symptom. They work in a balanced way to make and mould bo... What is Paget's disease of bone. Paget's disease of bone.
Patient information leaflet
מחלת אלצהיימר
Alzheimer's disease is a cause of dementia. There is no cure and it can cause a great deal of distress for those affected and their families. However, early diagnosis is important because there is a great deal of support as we... See the separate leaflet called Medication and treatment for dementia. Early-onset Alzheimer's disease Most people who.
Patient information leaflet
תרופות וטיפול בדמנציה
The aims of treatment for people with dementia are to slow ה worsening of symptoms, maintain function and so promote independence. Medicines for dementia are used to help with symptoms that affect thinking and memory, as well as symptoms that affect mood and behaviour. But there are also many non-drug treatments that can help support a person.
Patient information leaflet
מחלת וילסון
מחלת וילסון מטופל? a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further bu... Severe rigidity. Dementia. Wilson's disease eyes Copper may build up in the.
קריאה נוספת והפניות
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; MedlinePlus, National Library of Medicine.
- Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis VE. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol. 2006 Jun;65(6):571-81. doi: 10.1097/00005072-200606000-00005.
- Guinto JB, Ritson GP, Taylor JP, Forman MS. Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol. 2007 Jul;114(1):55-61. doi: 10.1007/s00401-007-0224-7. Epub 2007 Apr 25.
- Kimonis V, Romano C. Multisystem Proteinopathy. 2007 May 25 [updated 2026 Sep 3]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1476/
- Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A. 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862.
- Kimonis VE, Watts GD. Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Alzheimer Dis Assoc Disord. 2005 Oct-Dec;19 Suppl 1:S44-7. doi: 10.1097/01.wad.0000183081.76820.5a.
- Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V; VCP Standards of Care Working Group. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet J Rare Dis. 2022 Jan 29;17(1):23. doi: 10.1186/s13023-022-02172-5.
- Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001 Dec;74(4):458-75. doi: 10.1006/mgme.2001.3256.
- Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol Neurosci. 2011 Nov;45(3):522-31. doi: 10.1007/s12031-011-9627-y. Epub 2011 Sep 3.
- Nalbandian A, Ghimbovschi S, Radom-Aizik S, Dec E, Vesa J, Martin B, Knoblach S, Smith C, Hoffman E, Kimonis VE. Global gene profiling of VCP-associated inclusion body myopathy. Clin Transl Sci. 2012 Jun;5(3):226-34. doi: 10.1111/j.1752-8062.2012.00407.x. Epub 2012 Apr 4.
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