A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
Inflammation of a muscle or muscle tissue.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). (1/39)

We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutations--Arg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, and Lys1729del in exons 32, 34, 35, and 36 of MYH7--in six families with early-onset distal myopathy. All five mutations are predicted, by in silico analysis, to locally disrupt the ability of the myosin tail to form the coiled coil, which is its normal structure. These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified.  (+info)

Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. (2/39)

Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to an amino acid substitution from the glutamic acid to glutamine at the 389 of the peptide sequence in this patient. This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea.  (+info)

Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. (3/39)

Distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with early adult onset, displays distal dominant muscular involvement and is characterized by the presence of numerous rimmed vacuoles in the affected muscle fibers. The pathophysiology of DMRV has not been clarified yet, although the responsible gene was identified as that encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase involved in the biosynthesis of sialic acids. To identify defective carbohydrate moieties of muscular glycoproteins from DMRV patients, frozen skeletal muscle sections from seven patients with DMRV, as well as normal and pathological controls, were treated with or without sialidase or N-glycosidase F followed by lectin staining and lectin blotting analysis. The sialic acid contents of the O-glycans in the skeletal muscle specimens from the DMRV patients were also measured. We found that Arachis hypogaea agglutinin (PNA) lectin reacted strongly with sarcolemmal glycoproteins in the DMRV patients but not with those in control subjects. alpha-Dystroglycan from the DMRV patients strongly associated with PNA lectin, although that from controls did not. The sialic acid level of the O-glycans in the DMRV muscular glycoproteins with molecular weights of 30 to 200 kd was reduced to 60 to 80% of the control level. The results show that impaired sialyl O-glycan formation in muscular glycoproteins, including alpha-dystroglycan, occurs in DMRV.  (+info)

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. (4/39)

BACKGROUND: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7. It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one form of dilated cardiomyopathy. However, the clinical picture of MPD1 is distinct from these three conditions. OBJECTIVE: To collate and discuss the histological features reported in the muscle biopsies of MPD1 patients and to outline the clinical features. RESULTS: The phenotype of MPD1 was consistent, with initial weakness of great toe/ankle dorsiflexion, and later development of weakness of finger extension and neck flexion. Age of onset was the only variable, being from birth up to the 20 s, but progression was always very slow. The pathological features were variable. In this retrospective series, there were no pathognomonic diagnostic features, although atrophic type I fibres were found in half the families. Rimmed vacuoles are consistently seen in all other distal myopathies with the exception of Myoshi distal myopathy. However, they were found in a minority of patients with MPD1, and were not prominent when present. Immunohistochemical staining for slow and fast myosin showed co-expression of slow and fast myosin in some type I fibres, possibly indicating a switch to type II status. This may be a useful aid to diagnosis. CONCLUSIONS: The pathological findings in MPD1 are variable and appear to be affected by factors such as the specific muscle biopsied, the age of the patient at biopsy, and the duration of disease manifestations.  (+info)

Collagen VI related muscle disorders. (5/39)

Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.  (+info)

Distal myopathy with rimmed vacuoles and cerebellar atrophy. (6/39)

Distal myopathies constitute a clinically and pathologically heterogeneous group of genetically determined neuromuscular disorders, where the distal muscles of the upper or lower limbs are affected. The disease of a 41-year-old male patient started with gait disturbances, when he was 25. The progression was slow, but after 16 years he became seriously disabled. Neurological examination showed moderate to severe weakness in distal muscles of all extremities, marked cerebellar sign and steppage gait. Muscle biopsy resulted in myopathic changes with rimmed vacuoles. Brain MRI scan showed cerebellar atrophy. This case demonstrates a rare association of distal myopathy and cerebellar atrophy.  (+info)

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. (7/39)

During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease. Currently, the next steps are carried out to identify the molecular pathogenesis downstream of the gene defects. Some early ideas on what is going on in the muscle cells based on the defect proteins are emerging. However, in no single distal muscular dystrophy these efforts have yet reached the point where direct trials for therapy would have been launched, and in many distal dystrophies the causative gene is still lacking. When comparing the gene defects in the distal dystrophies with the more common proximal muscular dystrophies such as dystrophinopathies or limb-girdle muscular dystrophies, there is a striking difference: the genes for distal dystrophies encode sarcomere proteins whereas the genes for proximal dystrophies more often encode sarcolemmal proteins.  (+info)

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (8/39)

Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. It is pathologically characterized by the presence of rimmed vacuoles especially in atrophic fibers, which also occasionally contain congophilic materials that are immunoreactive to beta-amyloid, lysosomal proteins, ubiquitin and tau proteins. To elucidate the pathomechanism of this myopathy and to explore the treatment options, we generated a mouse model of DMRV/h-IBM. We knocked out the Gne gene in the mouse, but this resulted in embryonic lethality. We therefore generated a transgenic mouse that expressed the human GNEV572L mutation, which is the most prevalent among Japanese DMRV patients, and crossed this with Gne((+/-)) mouse to obtain Gne((-/-))hGNEV572L-Tg. Interestingly, these mice exhibit marked hyposialylation in serum, muscle and other organs. Reduction in motor performance in these mice can only be seen from 30 weeks of age. A compelling finding is the development of beta-amyloid deposition in myofibers by 32 weeks, which clearly precedes rimmed vacuole formation at 42 weeks. These results show that the Gne((-/-)) hGNEV572L-Tg mouse mimics the clinical, histopathological and biochemical features of DMRV/h-IBM, making it useful for understanding the pathomechanism of this myopathy and for employing different strategies for therapy. Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/h-IBM.  (+info)

Distal myopathies are a group of rare genetic muscle disorders that primarily affect the muscles of the hands, feet, and lower legs. These myopathies are characterized by progressive weakness and wasting (atrophy) of the distal muscles, which are located further from the center of the body. The onset of symptoms can vary widely, ranging from early childhood to late adulthood.

There are several different types of distal myopathies, each caused by mutations in specific genes that affect muscle function. Some common forms include:

1. Nonaka Distal Myopathy: This form is caused by mutations in the GNE gene and typically presents in the third or fourth decade of life with weakness and wasting of the ankle dorsiflexors, foot extensors, and wrist and finger extensors.

2. Miyoshi Distal Myopathy: This form is caused by mutations in the DYSF gene and affects the calf muscles initially, followed by weakness in other distal muscles over time.

3. Welander Distal Myopathy: This form is caused by mutations in the TIA1 gene and typically presents in adulthood with weakness and wasting of the hand and forearm muscles.

4. Laing Distal Myopathy: This form is caused by mutations in the CAV3 gene and affects the anterior compartment of the lower leg, resulting in foot drop and weakness of the ankle dorsiflexors.

5. Gowers Distal Myopathy: This form is caused by mutations in the HNRNPDL gene and typically presents in adulthood with weakness and wasting of the hand and forearm muscles, as well as foot drop.

There is no cure for distal myopathies, but treatment can help manage symptoms and improve quality of life. Physical therapy, bracing, and orthotics may be used to support weakened muscles and maintain mobility. In some cases, medications such as corticosteroids or immunosuppressants may be prescribed to reduce muscle inflammation and slow disease progression.

Myositis is a medical term that refers to inflammation of the muscle tissue. This condition can cause various symptoms, including muscle weakness, pain, swelling, and stiffness. There are several types of myositis, such as polymyositis, dermatomyositis, and inclusion body myositis, which have different causes and characteristics.

Polymyositis is a type of myositis that affects multiple muscle groups, particularly those close to the trunk of the body. Dermatomyositis is characterized by muscle inflammation as well as a skin rash. Inclusion body myositis is a less common form of myositis that typically affects older adults and can cause both muscle weakness and wasting.

The causes of myositis vary depending on the type, but they can include autoimmune disorders, infections, medications, and other medical conditions. Treatment for myositis may involve medication to reduce inflammation, physical therapy to maintain muscle strength and flexibility, and lifestyle changes to manage symptoms and prevent complications.

There are eight known types of distal myopathy.[citation needed] In terms of diagnosis, Vocal cord and pharyngeal distal ... Distal myopathy has slow progress therefore the patient may not know that they have it until they are in their late 40s or 50s ... Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or ... Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower ...
Distal myopathy with rimmed vacuoles; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy ... autosomal recessive form of inclusion body myopathy) and Nonaka type distal myopathy (distal myopathy with rimmed vacuoles). ... In Japan and other East Asian countries, this disorder is known as Distal Myopathy with Rimmed Vacuoles (DMRV). IBM2 causes ... "ORPHA602: GNE myopathy". OrphaNet. Retrieved 19 September 2016. Carrillo N, Malicdan MC, Huizing M (2018). "GNE myopathy: ...
In 1951 Welander was the first to describe the hereditary muscular disease Welander's distal myopathy, a type of distal ... doi:10.1001/archneurpsyc.1956.02330230050005 Welander, L. (1957). "Homozygous Appearance of Distal Myopathy". Acta Genetica et ...
"MYOPATHY, DISTAL, 1; MPD1". www.omim.org. Retrieved 2023-09-23. "CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; ... 616231 - MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA". omim.org. Retrieved 2023-07-03. "#619040 - MYOFIBRILLAR MYOPATHY 10 ... 300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA". omim.org. Retrieved 2023-07-03. "#613319 - MIYOSHI MUSCULAR ... 618823 - CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYP9B". omim.org. Retrieved 2023-07-03. Tajsharghi, Homa; ...
Milone M, Liewluck T (March 2019). "The unfolding spectrum of inherited distal myopathies". Muscle Nerve. 59 (3): 283-294. doi: ... in combination with either distal myopathy or Pagetic bone degeneration. Most MSP patients present with weakness, and of these ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Kimonis V (1993). "Inclusion Body Myopathy with ... Historically, several different names have been used to describe MSP, most commonly "inclusion body myopathy with early-onset ...
"Distal Myopathies - Types of Distal MD". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16. "OMIM Entry - # ...
provided by RefSeq, Feb 2016]. Currently there is no treatment for the distal myopathy caused by the mutation in ADSSL1 gene. ... Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants ... "ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy". Ann. Neurol. 79 (2): 231-43. doi:10.1002/ana ...
... a new metabolic myopathy of distal glycolysis". Annals of Neurology. 50 (2): 202-7. doi:10.1002/ana.1095. PMID 11506403. Zhao S ...
2003). "Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy". Neurology. 59 (11): 1689-93. ... 2002). "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene". Neurology. 59 (3): 451-4. doi:10.1212/wnl.59.3. ... 2002). "Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE ... 1996). "Hereditary inclusion body myopathy maps to chromosome 9p1-q1". Hum. Mol. Genet. 5 (1): 159-163. doi:10.1093/hmg/5.1.159 ...
... a new metabolic myopathy of distal glycolysis". Annals of Neurology. 50 (2): 202-7. doi:10.1002/ana.1095. PMID 11506403. S2CID ... Muscle β-enolase deficiency (glycogen storage disease type XIII) is a rare inherited metabolic myopathy caused by a defect in ...
NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview GeneReviews/NCBI/NIH/UW entry on Udd Distal Myopathy, Tibial ... early-onset myopathy with fatal cardiomyopathy, core myopathy with heart disease, centronuclear myopathy, limb-girdle muscular ... Udd Myopathy GeneReviews/NIH/NCBI/UW entry on Salih Myopathy or Early-Onset Myopathy with Fatal Cardiomyopathy InterPro domain ... "Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J". Neurology. 64 (4): 636-642. ...
April 2013). "Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1". Annals of Neurology. 73 (4): ... April 2013). "Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing". Human ... and Welander distal myopathy. It also plays a crucial role in the development of toxic oligomeric tau in Alzheimer's disease. ...
GeneReviews/NCBI/NIH/UW entry on Dysferlinopathy including Miyoshi Distal Myopathy (Miyoshi Myopathy), Limb-Girdle Muscular ... including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy (DM). A reduction or ... von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G (2003). "Refined mapping of the Welander distal myopathy region on ... "Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype". Ann. Neurol. 49 (1): ...
The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by mutations in the gene referred ... "Zaspopathy in a large classic late-onset distal myopathy family" (Free full text). Brain: A Journal of Neurology. 130 (Pt 6): ... Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant form of progressive muscular dystrophy, ...
... occurs also in certain types of limb-girdle muscular dystrophies, myofibrillary myopathies, distal myopathies, and ... diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American ... inclusion body myopathies. Other channelopathies may cause it as well. It is also associated with Schwartz-Jampel syndrome. ...
Myofibrillar Myopathy (MFM), Spheroid Body Myopathy and Distal Myopath. The mechanism underlying the pathology is still under ... "Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)". Annals of Human ... GeneReviews/NIH/NCBI/UW entry on Myofibrillar Myopathy Overview of all the structural information available in the PDB for ... Selcen D, Engel AG (Apr 2004). "Mutations in myotilin cause myofibrillar myopathy". Neurology. 62 (8): 1363-71. doi:10.1212/01. ...
Dysferlinopathies include limb-girdle muscular dystrophy (LGMD) 2B, Miyoshi myopathy (MM) and distal myopathy of the anterior ...
MDA's scope also includes numerous rare disorders, such as Andersen-Tawil syndrome, Laing distal myopathy, and Walker-Warburg ... myopathies, neuromuscular junction diseases, and peripheral nerve diseases. Specific examples include Duchenne Muscular ...
... distal myopathy and cardiomyopathy. Both muscles of upper and lower extremity would be affected. The symptoms are progressive. ... "Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy". Neurology. 93 (8): 371.2-371 ... "X-Linked Myopathy with Excessive Autophagy". NORD (National Organization for Rare Disorders). Retrieved 2020-04-06. Vissing J, ... Autophagic vacuolar myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological ...
... with an autosomal dominant rimmed vacuolar myopathy The clinical features of this condition are distal and proximal myopathy. ... "Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree". J. Neurol. Sci. 109 (1): ... "Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24". Hum. Mol. Genet. 5 (7): ... Meadows JC, Marsden CD (1969). "A distal form of chronic spinal muscular atrophy". Neurology. 19 (1): 53-8. doi:10.1212/wnl. ...
The disease GNE myopathy [formerly known as hereditary Inclusion Body Myopathy (HIBM), and Distal Myopathy with Rimmed Vacuoles ... GNE myopathy is a rare genetic disorder caused by hyposialylated muscle proteins and glycosphingolipids because there is ... There is no available therapy to treat GNE myopathy. There is a growing body of evidence that reduced activity of the GNE ... Huizing, M; Krasnewich, D (2009). "Hereditary inclusion body myopathy a decade of progress". Biochimica et Biophysica Acta (BBA ...
... distal myopathies MeSH C05.651.534.500.149 - glycogen storage disease type vii MeSH C05.651.534.500.280 - muscular dystrophies ... myopathies, nemaline MeSH C05.651.575.300 - myopathy, central core MeSH C05.651.594.297 - dermatomyositis MeSH C05.651.594.600 ...
... distal myopathies MeSH C10.668.491.175.500.149 - muscular dystrophies, limb-girdle MeSH C10.668.491.175.500.300 - muscular ... myopathies, structural, congenital MeSH C10.668.491.550.290 - myopathies, nemaline MeSH C10.668.491.550.300 - myopathy, central ... mitochondrial myopathies MeSH C10.668.491.500.500 - mitochondrial encephalomyopathies MeSH C10.668.491.500.500.500 - melas ...
... distal myopathies MeSH C16.320.577.149 - glycogen storage disease type VII MeSH C16.320.577.280 - muscular dystrophies, limb- ...
... and ADSSL1 distal myopathy. As of 2022, none of these conditions have a viable treatment available for the population impacted ...
The disease is now known as granulomatosis with polyangiitis.) Weil's disease - Adolf Weil Welander distal myopathy - Lisa ...
NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview GeneReviews/NCBI/NIH/UW entry on Laing Distal Myopathy MYH7+ ...
Laminopathies Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially ... Nemaline myopathy Central core myopathy Centronuclear myopathy Congenital fiber type disproportion Multi/minicore myopathy ... Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the ... Selcen, D (March 2011). "Myofibrillar myopathies". Neuromuscular Disorders. 21 (3): 161-71. doi:10.1016/j.nmd.2010.12.007. PMC ...
Welander distal myopathy, Friedreich's ataxia and Chronic Compartment Syndrome . It may also occur as a result of hip ... which is caused by impingement of the nerve roots within the spinal canal distal to the end of the spinal cord; Spinal cord ( ...
Weinstein-Kliman-Scully syndrome Weismann-Netter-Stuhl syndrome Weissenbacher-Zweymuller syndrome Welander distal myopathy, ...
There are eight known types of distal myopathy.[citation needed] In terms of diagnosis, Vocal cord and pharyngeal distal ... Distal myopathy has slow progress therefore the patient may not know that they have it until they are in their late 40s or 50s ... Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or ... Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower ...
... distal muscles), such as those of the hands and feet. Explore symptoms, inheritance, genetics of this condition. ... related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function ... CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of ... medlineplus.gov/genetics/condition/cav3-related-distal-myopathy/ CAV3-related distal myopathy. ...
... distal myopathies which are relatively frequent in Japan: GNE myopathy and oculopharyngodistal myopathy (OPDM). ... Seminar: Distal myopathies - elucidation of mechanism and development of therapy Dr Ichizo Nishino, Director of the Department ... GNE myopathy is an autosomal recessive muscle disease characterized clinically by preferential involvement of tibialis anterior ... indicating that sialic acid deficiency is the cause of GNE myopathy and that the disease can be suppressed by sialic acid ...
It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. ... The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing ... X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. ... Myopathy, distal, 7, adult-onset, X-linked Myopathy, distal, 7, adult-onset, X-linked. ...
New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet ... New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet ... The results show that Laing early-onset distal myopathy manifests itself similarly in fruit flies and humans and that the Abba ... The muscle disease Laing early-onset distal myopathy is caused by an inherited mutation in a muscle protein, myosin, that ...
... and hereditary inclusion body myopathies (h-IBM) encompass a group of disorders sharing the common pathological finding of ... distal myopathy, Nonaka distal myopathy, and tibial muscular dystrophy, all of which can be classified as h-IBM. Gene testing ... Late-onset distal myopathies. Clinically and genetically heterogeneous group of diseases; positive family history unless ... Malicdan MC, Noguchi S, Nishino I. Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment ...
To elucidate whether GNE myopathy is treatable at a progressive stage of the disease, we examined the efficacy of … ... Patients with GNE myopathy, a progressive and debilitating disease caused by a genetic defect in sialic acid biosynthesis, rely ... Keywords: GNE myopathy; amyloid inclusion; distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (hIBM ... Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice Brain. 2014 Oct;137(Pt 10):2670-9. doi: ...
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. ... Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. / ... Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. In ... Dive into the research topics of Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy ...
T2 - Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles (Journal of Human Genetics ... Erratum: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles (Journal of Human ... Erratum: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles (Journal of Human ... Erratum : Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles (Journal of Human ...
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. L. S. Ro, G. J. Lee-Chen, Y. R. Wu, M. Lee, P ... 深入研究「Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy」主題。共同形成了獨特的指紋。 ...
Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. doi: 10.1016/S0072-9752(07)86011-8. No abstract available. ... Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 2005 Feb 22;64(4): ... Early-onset myopathy with fatal cardiomyopathy. Variants in the TTN gene have been identified in people with early-onset ... Centronuclear myopathy. Several variants (also known as mutations) in the TTN gene have been found to cause centronuclear ...
Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and ... Title: Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular ... Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. ...
It can result in complex neurodegenerative conditions including inclusion body myopathy, frontotemporal dementia, amyotrophic ... shifting the penetrance toward myopathy and manifesting as a late-onset, milder phenotype resembling Welander distal myopathy [ ... Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann. Neurol. 2013, 73, 500-509. [Google ... Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum. Mutat. 2013, 34 ...
Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with ... Alpha-B crystallin-related late-onset myopathy. Disease definition A rare, genetic, alpha-crystallinopathy disease ... characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. ...
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet. 2017;25( ...
Myopathy of the distal type and its relation to the neuroforamin of muscular atrophy (Charcot Marie Tooth Type). J Neur Med Dis ... A lecture on myopathy and a distal form. Br Med J. 1902. 2:89. ... Myopathy of the quadriceps muscles. J Neurol Sci. 1968 Sep-Oct ... Hereditary quadriceps myopathy. J Neurol Neurosurg Psychiatry. 1973 Dec. 36(6):1041-5. [QxMD MEDLINE Link]. [Full Text]. ... Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998 Sep ...
She was diagnosed with scoliosis when she was 10 and, years later, with Laing distal myopathy, a rare form of muscular ...
Hereditary Inclusion Body Myopathy, and Distal Myopathy With Rimmed Vacuoles. ... Aceneuramic acid has been used in trials studying the treatment of Distal Myopathy, Nonaka Type, ...
The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial ... Inclusion Body Myopathy, Sporadic Narrower Concept UI. M0335634. Terms. Inclusion Body Myopathy, Sporadic Preferred Term Term ... Inclusion Body Myopathy, Sporadic Inclusion Body Myositis Inclusion Body Myositis, Sporadic Myopathy, Inclusion Body, Sporadic ... The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial ...
However, many of the late-onset limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain ... Mutations in the anoctamin 5 gene have so far been identified only in some cases of limb-girdle and distal myopathy. Mutations ... Case presentation We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia, ... a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the ...
Zellweger Syndrome,Cryptococcosis,Myopathy, Distal, 1,Body Mass Index Quantitative Trait Locus 11,Brugada Syndrome, ...
Distal Myopathy, Tateyama Type. Hypercholesterolemia, Abnormal circulating creatine kinase concentration. ORPHA:488650. ...
Distal Myopathy with Rimmed Vacuoles (DMRV) : Causes, Symptoms, and Treatment Options. Sheetal DeCaria, M.D. - ...
In 1993, at the age of 21, he was diagnosed with distal myopathy, a.k.a. distal muscular dystrophy, a disease characterized by ... progressive wasting of distal muscles. Although he retains feeling throughout his body, he has little or no ability to move his ...
KRAYA, T.; ZIERZ, S. Distal myopathies: from clinical classification to molecular understanding. J Neural Transm, Viena, v. 120 ...
Congenital Myopathy and Distal Myopathy NGS panel *List of diseases covered by Congenital Myopathy and Distal Myopathy NGS ... Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;. Myopathy, myosin storage, autosomal recessive;. ... Metabolic Myopathy and Rhabdomyolysis *List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel ... Metabolic Myopathy and Rhabdomyolysis *List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel ...
... our results indicate that increasing the levels of MATR3 in muscle can cause pathologic changes associated with myopathy, with ... as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). To begin to understand how mutations ... as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). To begin to understand how mutations ... Our data suggest that MATR3-linked diseases may lie on a spectrum between ALS and distal myopathy, and this spectrum is not ...
Distal muscular dystrophy or distal myopathy (DD). First described in 1902, distal muscular dystrophy is a class of muscular ... Idiopathic inflammatory myopathies (IIM) also known as inflammatory myopathies. Idiopathic inflammatory myopathies is the name ... Nemaline myopathy (NM) also known as Congenital Rod Disease or Nemaline Rod Myopathy ... The distal muscles are those furthest away from the centre of the body, including the lower arms, hands, lower legs and feet. ...
Genetics, 7, 5. Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness ... Clinical and experimental rheumatology Dipeptidyl peptidase 4/CD26 expression in human idiopathic inflammatory myopathies ...
Dominant collagen XII mutations cause a distal myopathy Mohassel P ; Liewluck T ; Hu Y ; Ezzo D ; Ogata T ; Saade D ; Neuhaus S ... Nature communications, 10, 1. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy ... The Journal of clinical investigation Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response ... American journal of human genetics, 107, 6. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with ...
  • New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy. (eurekalert.org)
  • The muscle disease Laing early-onset distal myopathy is caused by an inherited mutation in a muscle protein, myosin, that normally contributes to muscle contraction. (eurekalert.org)
  • The results show that Laing early-onset distal myopathy manifests itself similarly in fruit flies and humans and that the Abba enzyme constitutes a counterbalance to the mutation. (eurekalert.org)
  • We have treated diseased fruit flies that carry the same genetic change as patients with Laing distal myopathy," says Homa Tajsharghi, corresponding author behind the study. (eurekalert.org)
  • She was diagnosed with scoliosis when she was 10 and, years later, with Laing distal myopathy, a rare form of muscular dystrophy. (heart.org)
  • citation needed] Miyoshi myopathy affects the posterior muscles of the lower leg, more so than the anterior muscles of the lower leg. (wikipedia.org)
  • CAV3 -related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. (medlineplus.gov)
  • People with CAV3 -related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. (medlineplus.gov)
  • Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3 -related distal myopathy. (medlineplus.gov)
  • The distribution of weakness in s-IBM is variable, but both proximal and distal muscles are usually affected and, unlike polymyositis and dermatomyositis, asymmetry is common. (medscape.com)
  • Several variants (also known as mutations) in the TTN gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles. (medlineplus.gov)
  • Several variants in the TTN gene have been found to cause hereditary myopathy with early respiratory failure (HMERF), an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles). (medlineplus.gov)
  • The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. (nih.gov)
  • Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. (uni-wuerzburg.de)
  • Case presentation We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia, preferentially of the leg muscles, closely resembling the Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. (uni-wuerzburg.de)
  • Case presentation We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia, preferentially of the leg muscles, closely resembling the Miyoshi phenotype. (uni-wuerzburg.de)
  • In 1993, at the age of 21, he was diagnosed with distal myopathy, a.k.a. distal muscular dystrophy, a disease characterized by progressive wasting of distal muscles. (japanupdate.com)
  • First described in 1902, distal muscular dystrophy is a class of muscular dystrophies that primarily affect distal muscles. (mdqld.org.au)
  • The distal muscles are those furthest away from the centre of the body, including the lower arms, hands, lower legs and feet. (mdqld.org.au)
  • Idiopathic inflammatory myopathies is the name given to a non-hereditary group of conditions caused by inflammation in the muscles or associated tissue. (mdqld.org.au)
  • Steroid myopathy is usually an insidious disease process that causes weakness mainly to the proximal muscles of the upper and lower limbs and to the neck flexors. (medscape.com)
  • G71.2) The congenital myopathies do not show evidence for either a progressive dystrophic process (i.e., muscle death) or inflammation, but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. (wikidoc.org)
  • Les douleurs peuvent être en effet localisées sur un muscle ou un groupe de muscles ou au contraire généralisées, associées à d'autres douleurs comme des douleurs articulaires ou de la fièvre. (conseilsrapides.fr)
  • Les myopathies sont des maladies liées à des désordres de fonctionnement des muscles, le plus souvent d'origine génétique. (conseilsrapides.fr)
  • The disease manifests in adulthood with proximal weakness that progresses to involve distal muscles and causes respiratory and, in some patients, cardiac failure. (ki.se)
  • Diffuse muscle dysfunction (eg, in myopathies) tends to be most noticeable in the largest muscle groups (proximal muscles). (msdmanuals.com)
  • Sporadic inclusion body myositis (s-IBM) and hereditary inclusion body myopathies (h-IBM) encompass a group of disorders sharing the common pathological finding of vacuoles and filamentous inclusions. (medscape.com)
  • The term inclusion body myositis was originally used by Yunis and Samaha in 1971 for a case of myopathy that phenotypically suggested chronic polymyositis but showed cytoplasmic vacuoles and inclusions on muscle biopsy . (medscape.com)
  • Aceneuramic acid has been used in trials studying the treatment of Distal Myopathy, Nonaka Type, Hereditary Inclusion Body Myopathy, and Distal Myopathy With Rimmed Vacuoles. (rcsb.org)
  • CAV3 -related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. (medlineplus.gov)
  • In addition to CAV3 -related distal myopathy, CAV3 gene mutations can cause other caveolinopathies including limb-girdle muscular dystrophy , rippling muscle disease , isolated hyperCKemia , and a heart disorder called hypertrophic cardiomyopathy. (medlineplus.gov)
  • Four different phenotypes have been associated with CAV3 mutations: limb girdle muscular dystrophy-1C (LGMD-1C), rippling muscle disease (RMD), and distal myopathy (DM), as well as idiopathic and familial hyperCKemia (HCK). (elsevierpure.com)
  • Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. (nih.gov)
  • Mutations in the anoctamin 5 gene have so far been identified only in some cases of limb-girdle and distal myopathy. (uni-wuerzburg.de)
  • Mutations in the anoctamin 5 gene have been assigned to limb-girdle muscular dystrophy type 2L, while distal Miyoshi-like phenotypes have been classified as Miyoshi myopathy type 3. (uni-wuerzburg.de)
  • Furthermore, our case supports the recent observation that anoctamin 5 mutations are a primary cause of distal non-dysferlin myopathies. (uni-wuerzburg.de)
  • Therefore, given the increasing number of anoctamin 5 mutations in Miyoshi-like phenotypes, genetic analysis should include an anoctamin 5 screen in late-onset limb-girdle and distal myopathies. (uni-wuerzburg.de)
  • Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). (biomedcentral.com)
  • Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain. (wustl.edu)
  • Mutations in the J domain of DNAJB6 cause dominant distal myopathy. (wustl.edu)
  • Human heterozygous mutations in TPM2 cause distal arthrogryposis and CAP and nemaline myopathies. (spuonline.org)
  • However, many of the late-onset limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis. (uni-wuerzburg.de)
  • Conclusion The case presented in this report further strengthens the underlying genetic heterogeneity in Miyoshi myopathy-like phenotypes and adds another family to non-dysferlin, Miyoshi myopathy type 3 of late-onset. (uni-wuerzburg.de)
  • Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). (beds.ac.uk)
  • A less severe form of centronuclear myopathy that may present itself at birth or in early childhood progresses slowly and is inherited as an autosomal recessive genetic trait. (wikidoc.org)
  • Sporadic inclusion body myositis (s-IBM) has been traditionally classified as one of the idiopathic inflammatory myopathies along with dermatomyositis (DM) and polymyositis (PM). However, the pathologic findings of sporadic inclusion body myositis (s-IBM) involve both inflammatory and degenerative characteristics, and the true primary pathogenesis of the disease remains a subject of significant debate. (medscape.com)
  • citation needed] In terms of diagnosis, Vocal cord and pharyngeal distal myopathy should be assessed via serum CK levels, as well as muscle biopsy of the individual suspected of being afflicted with this condition As of 2011, no disease modifying treatments are known. (wikipedia.org)
  • Distal muscular dystrophies. (wikipedia.org)
  • G71.0) Dystrophies (or muscular dystrophies) are a subgroup of myopathies characterized by muscle degeneration and regeneration. (wikidoc.org)
  • Clinical utility of anti-cytosolic 5′-nucleotidase 1A antibody in idiopathic inflammatory myopathies. (wustl.edu)
  • It is unclear how TTN gene variants cause centronuclear myopathy, but it is likely that a shortage of normal titin protein leads to dysfunction of the sarcomere. (medlineplus.gov)
  • Abnormal sarcomeres prevent muscle cells from contracting and relaxing normally, resulting in the muscle weakness that is characteristic of centronuclear myopathy. (medlineplus.gov)
  • This is the form of centronuclear myopathy currently referred to as myotubular myopathy . (wikidoc.org)
  • X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. (nih.gov)
  • A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. (orpha.net)
  • Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. (wikipedia.org)
  • It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. (nih.gov)
  • Expression of s-IBM is variable, but all cases eventually evolve into a syndrome of diffuse, progressive, asymmetric, proximal, and distal weakness that is generally refractory to immunosuppressive treatment. (medscape.com)
  • Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. (orpha.net)
  • Although there are no definitive recommendations regarding therapy for steroid myopathy, it would seem reasonable to direct therapy to address the weakness and resulting impaired mobility. (medscape.com)
  • In cases of myopathy caused by long-term corticosteroid use, decreasing the corticosteroid dose to below a 30 mg/d threshold may result in resolution of muscle weakness. (medscape.com)
  • In medicine , a myopathy is a neuromuscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness . (wikidoc.org)
  • The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. (beds.ac.uk)
  • A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. (bvsalud.org)
  • Peripheral polyneuropathies tend to be most noticeable in the longest nerves (ie, weakness is more prominent in the distal limb than the proximal and in legs more than arms) and produce signs of lower motor neuron dysfunction (eg, decreased reflexes and muscle tone). (msdmanuals.com)
  • Variants in the TTN gene have been identified in people with early-onset myopathy with fatal cardiomyopathy (EOMFC), an inherited disease that affects both skeletal and cardiac muscle. (medlineplus.gov)
  • Sarcoplasmic body myopathy (SBM) was first characterised in a large Swedish family by Edström et al in 1980, described as a novel late onset distal myopathy with characteristic sarcoplasmic inclusions. (ki.se)
  • Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. (orpha.net)
  • We have included an additional panel, chosen for particular characteristics on muscle biopsy, for the study of myofibrillar and protein aggregate myopathies . (digitis.net)
  • Selcen D. Myofibrillar myopathies. (digitis.net)
  • One of the most common disabling inflammatory myopathies in those over the age of 50 is inclusion body myositis (IBM). (mdqld.org.au)
  • Inflammatory myopathy is also known as myositis. (mdqld.org.au)
  • G72.4) Inflammatory myopathies are caused by problems with the immune system attacking components of the muscle, leading to signs of inflammation in the muscle. (wikidoc.org)
  • Patients with GNE myopathy, a progressive and debilitating disease caused by a genetic defect in sialic acid biosynthesis, rely on supportive care and eventually become wheelchair-bound. (nih.gov)
  • Currently, there is no genetic cure for any congenital myopathy. (medscape.com)
  • In acute steroid myopathy, most patients have high levels of serum creatine kinase, as well as associated myoglobinuria. (medscape.com)
  • Although circulating muscle proteins such as creatine kinase and myoglobin are increased in acute steroid myopathy, glucocorticoid down-regulation of protein synthesis may lead to decreased levels of these proteins in chronic steroid myopathy. (medscape.com)
  • OPDM is an autosomal dominant muscle disease which is characterized by ocular and bulbar symptoms, including ptosis, ophtalmoparesis, and dysphagia, in addition to preferential distal limb muscle involvement. (ox.ac.uk)
  • The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. (nih.gov)
  • Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies. (wustl.edu)
  • 6'-sialyllactose ameliorated muscle atrophy and degeneration in symptomatic GNE myopathy mice. (nih.gov)
  • Overall, our results indicate that increasing the levels of MATR3 in muscle can cause pathologic changes associated with myopathy, with MATR3 F115C expression causing overt muscle atrophy and a profound motor phenotype. (biomedcentral.com)
  • In chronic steroid myopathy, muscle biopsy shows preferential atrophy of type II fibers, particularly the fast-twitch glycolytic fibers (type IIB). (medscape.com)
  • Myopathic disorders often display ultrasonographic abnormalities, which can vary between different types of myopathies. (medscape.com)
  • Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. (nih.gov)
  • A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. (broadinstitute.org)
  • Phenotypic manifestations were almost completely suppressed, indicating that sialic acid deficiency is the cause of GNE myopathy and that the disease can be suppressed by sialic acid supplementation. (ox.ac.uk)
  • To elucidate whether GNE myopathy is treatable at a progressive stage of the disease, we examined the efficacy of sialic acid supplementation on symptomatic old GNE myopathy mice that have ongoing, active muscle degeneration. (nih.gov)
  • Our results provide evidence that GNE myopathy can be treated even at a progressive stage and 6'-sialyllactose has more remarkable advantage than free sialic acid, providing a conceptual proof for clinical use in patients. (nih.gov)
  • ZIERZ, S. Distal myopathies: from clinical classification to molecular understanding. (bvsalud.org)