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Distal Myopathies (Distal Muscular Dystrophy)

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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.

Also Known As:

Distal Muscular Dystrophy; Distal Myopathy; Welander Distal Myopathy; Distal Muscular Dystrophies; Finnish-Markesbery Muscular Dystrophy; Tibial Muscular Dystrophy; Udd-Markesbery Muscular Dystrophy; Distal Myopathy, Welander; Finnish Markesbery Muscular Dystrophy; Muscular Dystrophies, Distal; Muscular Dystrophy, Finnish-Markesbery; Muscular Dystrophy, Tibial; Muscular Dystrophy, Udd-Markesbery; Myopathies, Distal; Myopathy, Distal; Udd Markesbery Muscular Dystrophy; Muscular Dystrophy, Distal

Networked: 201 relevant articles (0 outcomes, 12 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Distal Myopathies (Distal Muscular Dystrophy)
3.	Muscular Dystrophies (Muscular Dystrophy)
4.	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
5.	Emery-Dreifuss Muscular Dystrophy (X-Linked Emery-Dreifuss Muscular Dystrophy)

Experts

1.	Nishino, Ichizo: 19 articles (09/2015 - 03/2004)
2.	Udd, Bjarne: 19 articles (07/2015 - 08/2002)
3.	Noguchi, Satoru: 13 articles (06/2014 - 03/2004)
4.	Hackman, Peter: 10 articles (02/2014 - 09/2002)
5.	Hayashi, Yukiko K: 9 articles (07/2012 - 03/2004)
6.	Vihola, Anna: 8 articles (07/2015 - 09/2002)
7.	Malicdan, May Christine V: 8 articles (07/2012 - 10/2005)
8.	Udd, B: 7 articles (10/2015 - 04/2001)
9.	Sarparanta, Jaakko: 7 articles (07/2015 - 09/2002)
10.	Nonaka, Ikuya: 7 articles (01/2012 - 03/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Distal Myopathies:

1.	N-acylmannosamine kinaseIBA 05/01/2012 - "We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. " 01/01/2014 - "Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. " 04/01/2007 - "Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. " 05/11/2004 - "Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. " 07/08/2015 - "Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles."
2.	Uridine Diphosphate (UDP)IBA 04/01/2007 - "Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. " 05/11/2004 - "Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. " 07/08/2015 - "Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles." 03/01/2008 - "UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles)." 12/01/2006 - "Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. "
3.	AcetylglucosamineIBA 04/01/2007 - "Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. " 05/11/2004 - "Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. " 07/08/2015 - "Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles." 03/01/2008 - "UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles)." 12/01/2006 - "Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. "
4.	DesminIBA 02/01/1994 - "Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship." 05/01/2000 - "Linkage of hereditary distal myopathy with desmin accumulation to 2q." 11/01/1999 - "A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation." 07/01/1994 - "This family shows a hereditary distal myopathy with some features in common with previously-reported cases in which biopsies showed cytoplasmic inclusion bodies containing desmin. " 03/01/1991 - "Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage."
5.	Miyoshi myopathyIBA 07/01/2015 - "Miyoshi myopathy may be distinct among the hereditary distal myopathies. " 07/01/2015 - "Miyoshi myopathy is an autosomal recessive distal myopathy with predominant involvement of the posterior calf muscles attributed to mutations in the dysferlin gene. " 01/01/2013 - "Miyoshi Myopathy (MM) is a congenital distal myopathy caused by defective muscle membrane repair due to mutations in DYSFERLIN. " 02/01/2012 - "Miyoshi myopathy is the most common form of recessive distal myopathy. " 01/01/2012 - "Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. "
6.	connectin (titin)IBA 02/01/2014 - "Several patients with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy (TMD) have more complex, severe, or unusual phenotypes. " 04/01/2010 - "The first Italian family with tibial muscular dystrophy caused by a novel titin mutation." 12/01/2008 - "Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. " 12/01/2008 - "Mutations in C-terminal titin cause autosomal dominant tibial muscular dystrophy (TMD) as reported previously. " 12/01/2008 - "Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)."
7.	N-Acetylneuraminic Acid (Sialic Acid)IBA 09/01/2015 - "[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles]." 03/01/2012 - "[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles]." 03/01/2010 - "A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review." 01/01/2012 - "[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)]." 10/01/2008 - "Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. "
8.	Myosins (Myosin)IBA 05/01/2007 - "MSM is morphologically characterized by subsarcolemmal accumulation of myosin in type 1 fibers, whereas Laing distal myopathy is associated with variable and unspecific muscle pathology, frequently with hypotrophic type 1 muscle fibers. " 02/01/2006 - "Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy." 01/01/2008 - "However, some mutations are associated with two distinct skeletal myopathies, namely Laing distal myopathy and myosin storage myopathy. " 05/01/2013 - "MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. " 01/01/2013 - "Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7). "
9.	Proteins (Proteins, Gene)IBA 08/01/2013 - "The known proteins affected in the distal myopathies are of many types and include a significant number of sarcomeric proteins. " 01/01/2009 - "Interestingly, most of the genes causing distal muscular dystrophies code for protein components of the sarcomere, in contrast to the proximal dystrophies in which most of the genes cause defects in sarcolemmal proteins. " 02/01/2007 - "Molecular biology of distal muscular dystrophies--sarcomeric proteins on top." 11/01/2000 - "Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles." 01/01/2002 - "To study the role of antioxidant enzymes in myopathies with rimmed vacuoles, we examined expressions of copper, zinc superoxide dismutase (Cu, Zn-SOD) and manganese superoxide dismutase (Mn-SOD), and the relationship between SODs and other proteins localized in rimmed vacuoles in muscle biopsy specimens from three cases of sporadic IBM and two of distal myopathy with rimmed vacuoles (DMRV) as well as eight control cases of myopathies without rimmed vacuoles. "
10.	DNA (Deoxyribonucleic Acid)IBA 08/01/1996 - "DNA defects, however, still have to be identified which would improve the present classifications of distal myopathies." 04/01/2015 - "In this study, DNA from 79 patients with sIBM was collected and the sequencing of 38 genes associated with hereditary inclusion body myopathy (IBM), myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, distal myopathy, amyotrophic lateral sclerosis and dementia along with C9orf72 hexanucleotide repeat analysis was performed. " 03/20/2012 - "DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. " 01/01/2016 - "MATR3 was previously associated to distal myopathy 2 and encodes for a nuclear matrix and DNA/RNA binding protein that has been shown to interact with TDP43 in an RNA-dependent manner. "

Therapies and Procedures

1.	Orthopedic Procedures 06/01/1998 - "Seeking evidence of transport abnormalities in distal myopathy with rimmed vacuoles (DMRV), we performed immunohistochemistry for clathrin in muscle biopsy specimens from patients with this disorder or other neuromuscular disorders, and also in control muscle samples resected in orthopedic procedures. "
2.	Nephrectomy 02/01/2015 - "A 56-year-old male with distal myopathy of rimmed vacuoles underwent laparoscopic nephrectomy. " 02/01/2015 - "[Anesthetic Management of Laparoscopic Nephrectomy for a Renal Cancer Patient with Distal Myopathy of Rimmed Vacuole]."