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Topic: Distal myopathy

Related Topics

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Distal myopathy

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Distal myopathy with vocal cord weakness

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	Distal myopathy (generic term) (Site not responding. Last check: 2007-10-30)
		Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness of upper and lower limbs (hands or feet).
		Nonaka myopathy and Miyoshi myopathy are transmitted in an autosomal dominant pattern, whereas Welander myopathy, Udd/Markesbery-Griggs myopathy, distal myopathy with vocal cord and pharyngeal weakness and Laing myopathy are inherited as autosomal recessive traits.
		Miyoshi myopathy is associated with a striking elevated serum creatine kinase level and the typical findings of muscular dystrophy, whereas most of the distal myopathies have normal or mildly elevated creatine kinase levels and share the common pathologic feature of rimmed vacuoles.
	www.orpha.net /static/GB/distal_myopathy_generic_term.html (131 words)

	Distal myopathy, Nonaka type
		This clinically distinct myopathy is a mid-life onset distal myopathy characterised by tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease.
		It is a distal myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait.
		Although this region overlaps with that involved in Miyoshi myopathy and limb-girdle muscular dystrophy 2B, which are both due to mutations in the dysferlin gene, this gene is not responsible for Welander distal myopathy.
	www.orpha.net /static/GB/distal_myopathy.html (543 words)

	Distal myopathies: clinical and molecular diagnosis and classification -- MASTAGLIA and LAING 67 (6): 703 -- Journal of ...
		Algorithm for the diagnosis and classification of the distal myopathies.
		Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
		An unusual late-onset distal myopathy with rimmed vacuoles and mitochondrial paracrystalline inclusions.
	jnnp.bmjjournals.com /cgi/content/full/67/6/703 (3010 words)

	Myopathy: Distal Weakness
		Not allelic with Miyoshi myopathy and LGMD 2B
		Distal Myopathy with Vocal Cord and Pharyngeal Weakness (MPD2)
		Myopathy: Proximal with type II muscle fiber atrophy
	www.neuro.wustl.edu /neuromuscular/musdist/distal.html (867 words)

	Muscular Dystrophy - Abstracts : Online Reference For Health Concerns (Site not responding. Last check: 2007-10-30)
		In the distal endplate zone of the muscle, although most terminals were degenerated in both the untreated and methyl-B12-treated GAD mice, sprouts were more frequently observed in the latter.
		Myopathy due to lack of vitamin E and myopathy induced by certain viruses have much in common anatomically and pathologically with the human form.
		Early wasting of the distal leg muscles, biceps, triceps, and neck muscles was noted in all patients, and all had contractures and severe rigidity of the spine.
	www.lef.org /protocols/abstracts/abstr-079.html (7815 words)

	Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy -- Nishino et al. 59 (11): 1689 ...
		Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy -- Nishino et al.
		Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
		GNE mutations causing distal myopathy with rimmed vacuoles with inflammation
	www.neurology.org /cgi/content/abstract/59/11/1689 (633 words)

	Muscular dystrophy, distal definition - Medical Dictionary definitions of popular medical terms
		Both types of distal MD are inherited in an autosomal dominant manner and may affect males and females.
		The second type of distal MD starts after age 40, affects the muscles of the hands and feet and then the muscles closer to the trunk but does not shorten the life span.
		Distal MD is also known as distal myopathy and distal hereditary myopathy.
	www.medterms.com /script/main/art.asp?articlekey=11685 (159 words)

	Neurology Journal Club Aricle #1
		Distal myopathies in humans are classified under the dystrophic group of muscle disorders.
		A tentative diagnosis of a primary myopathy was made based on the presence of abnormal gait and posture with normal conscious proprioception and spinal reflexes.
		Distal myopathies in humans are a heterogenous group of diseases with either an inherited basis or sporadic occurrence.1 It is of interest that EMG was not definitive in determining the distribution of lesions in dog 1.
	neuro.vetmed.ufl.edu /neuro/Journal_Club/Articles/Juvenil_Rott_Art.htm (3582 words)

	AAPM&R - EMG Case No. 67, cont (Site not responding. Last check: 2007-10-30)
		A peripheral mononeuropathy is a common explanation of asymmetric distal weakness.
		Myopathy is another potential cause of weakness that is not associated with prominent sensory complaints.
		Myopathy would also be a reasonable explanation of the “mild generalized weakness” mentioned at the end of the history.
	www.aapmr.org /education/emgcases/emg6703b.htm (990 words)

	Medical Dictionary: Distal myopathy, Nonaka type - WrongDiagnosis.com
		Distal myopathy, Nonaka type is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Distal myopathy, Nonaka type, or a subtype of Distal myopathy, Nonaka type, affects less than 200,000 people in the US population.
		They list Distal myopathy, Nonaka type as a "rare disease".
	www.wrongdiagnosis.com /medical/distal_myopathy_nonaka_type.htm (207 words)

	eMedicine - Congenital Myopathies : Article by Glenn Lopate, MD
		Rare congenital myopathies: In the most recent edition of the textbook Myology (2004), the remaining congenital myopathies are divided into “probable,” meaning several familial cases have been reported, and “possible or doubtful,” meaning fewer than 10 cases have been reported.
		Myopathy with muscle spindle excess: Only 1 case has been described and was characterized by congenital onset, hypotonia, proximal weakness, and arthrogryposis.
		Because the diagnosis of congenital myopathy is often difficult, a clinician experienced in the diagnosis and treatment of neuromuscular diseases should interpret the findings of laboratory tests (ie, CK level), electrodiagnostic studies, and muscle biopsies.
	www.emedicine.com /neuro/topic76.htm (5728 words)

	Limb-Girdle Muscular Dystrophy Overview
		Distal weakness refers to weakness in muscles farther from the center of the body (including lower legs and feet, lower arms and hands).
		Bethlem myopathy is characterized by the combination of proximal muscle weakness and variable contractures, affecting most frequently the long finger flexors, elbows, and ankles.
		Bethlem myopathy is inherited in an autosomal dominant manner and Ullrich congenital muscular dystrophy usually in an autosomal recessive manner.
	www.geneclinics.org /profiles/lgmd-overview/details.html (3309 words)

	[No title]
		DISTAL MUSCULAR DYSTROPHIES (Welander, Miyoshi Types) Included under this heading is a group of slowly progressive distal myopathies with onset principally in adult life.
		A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.
		Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
	malattierare.pediatria.unipd.it /pubblicaMR/mr_dx_ing.asp?mr=119 (6015 words)

	More on Myopathy
		In medicine, a myopathy is a neuromuscular disease in which the muscle fibers dysfunction for any one of many reasons, resulting in muscular weakness.
		Because myopathy is such a general term, there are several classes of myopathy.
		Because different types of myopathies are caused by many different pathways, there is no single treatment for myopathy.
	www.psyhist.com /myopathy.htm (307 words)

	Myopathy, Desmin Storage - SJMMC, Ann Arbor, Michigan MI
		Desmin storage myopathy (DSM) is a rare inherited muscle disorder that may be apparent at birth (congenital) or may not appear until as late as age 40.
		Symptoms of late onset desmin storage myopathy (autosomal dominant DSM) may include weakness of the muscles at the base of the thumb and/or weakness of the muscles used to flex the hand.
		The third form of desmin storage myopathy is characterized by heart disease (cardiomyopathy associated with DSM) that appears at variable ages and may lead to life-threatening complications.
	www.sjmercyhealth.org /14711.cfm (489 words)

	Myositis, Inclusion Body
		Inclusion body myositis is characterized by a distinct, progressive muscle weakness of the proximal and distal muscles of the arms and legs.
		Distal Myopathy affects predominantly the small muscles of the extremities.
		This study of inflammatory muscle diseases – the idiopathic inflammatory myopathies, including dermatomyositis, polymyositis, myositis and inclusion body myositis – is intended to help to further understand what causes these disorders and to promote the recognition of their signs and symptoms.
	hw.healthdialog.com /kbase/nord/nord649.htm (1897 words)

	New Page 1 (Site not responding. Last check: 2007-10-30)
		Hereditary inclusion body myopathy (HIBM) is a neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, and a typical muscle pathology including cytoplasmic rimmed vacuoles and cytoplasmic or nuclear ﬁlamentous inclusions composed of tubular ﬁlaments.
		HIBM is now known to be the same disease as distal myopathy with rimmed vacuoles (DMRV), which is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles and which is most prevalent in Asian (Japanese) populations [Ref.
		Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I. and Mizusawa, H. (2002) Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
	www.bme.jhu.edu /~kjyarema/HIBM/HIBM_main.htm (1080 words)

	A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles -- Williams et al. 64 (7): 1245 ...
		A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles -- Williams et al.
		A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles
		distal myopathy with sparing of the tibialis anterior.
	neurology.org /cgi/content/abstract/64/7/1245?maxtoshow=&HITS=10&... (336 words)

	Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations
		We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals.
		The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902.
		This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity.
	www.osti.gov /energycitations/product.biblio.jsp?osti_id=70404 (363 words)

	eMedicine - Limb-Girdle Muscular Dystrophy : Article by Glenn Lopate, MD
		The type of mutation is not correlated with the phenotype, ie, LGMD versus Miyoshi distal myopathy.
		Schematic of the sarcomere with labeled molecular components that are known to cause limb-girdle muscular dystrophy or myofibrillar myopathy.
		Mutations in actin and nebulin cause the congenital myopathy nemaline rod myopathy, and the mutations in myosin cause familial hypertrophic cardiomyopathy.
	www.emedicine.com /neuro/topic189.htm (6839 words)

	e-Prints Soton - Laing early onset distal myopathy: slow mysosin defect with variable abnormalities on muscle biopsy
		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.
		Rimmed vacuoles are consistently seen in all other distal myopathies with the exception of Myoshi distal myopathy.
	eprints.soton.ac.uk /27631 (382 words)

	Comparative Neuromuscular Laboratory
		A distal myopathy affecting young Rottweiler puppies was first described in 1998 (J Vet Intern Med 12:103-108) (Link to paper).
		The myopathy predominantly affected the distal limb muscles.
		Appendicular weakness was evidenced by postural abnormalities including hyperflexion of the hocks and carpi with a plantigrade and palmigrade stance (See video clip).
	medicine.ucsd.edu /vet_neuromuscular/cases/2003/oct03.html (390 words)

	Muscular Dystrophy Canada \| Tibial muscular dystrophy (Udd distal myopathy)
		Familial dilated cardiomyopathy with conduction defect and muscular dystrophy (CMD1F)
		Type 1 distal myopathy (MPD1) / Laing distal myopathy
		Vocal cord and pharyngeal weakness with AD distal myopathy (VPDMD) / type 2 distal myopathy (MPD2)
	www.muscle.ca /content/index.php?id=407 (195 words)

	Table of contents for Library of Congress control number 96044919
		Hereditary Inclusion-Body Myopathies - Clinical and Diagnostic Considerations: 10: Hereditary inclusion-body myopathy in Jews of Persian origin: Clinical and laboratory data 11.
		Hereditary inclusion-body myopathy (h-IBM) with quadriceps sparing: epidemiology and genetics 12: Familial autosomal-recessive inclusion-body myositis with asymptomatic leukoencephalopathy 13: Welander distal myopathy - clinical, pathophysiological, and molecular aspects 14.
		Distal myopathy with rimmed vacuoles, inclusion-body myositis and related disorders in Japan 16.
	www.loc.gov /catdir/toc/cam027/96044919.html (261 words)

	Division of Rehabilitation Medicine (Department of Public Health Sciences) - Karolinska Institutet
		Welander distal myopathy (WDM) is an autosomal dominant myopathy with late onset of muscle weakness of the hands and feet (Borg et al 1998).
		It is morphologically distinguished from other inflammatory myopathies by light microscopical muscle biopsy findings of ”rimmed vacuoles” corresponding, on the ultrastructural level, to autophagic vacuoles containing 15-20 nm diameter tubulofilamentous inclusions (Carpenter et al 1978, Lindberg et al 1991).
		Several proteins that accumulate in the brain of patients with Alzheimer´s disease including -amyloid, N and C terminals of APP, apoE and ubiquitin as well as prion protein have been identified in muscle fibres from IBM patients (Askanas and Engel 1995).
	www.phs.ki.se /rehab/research/muscular_disorders.htm (749 words)

	Pulmonary Dysfunction in Adults With Nephropathic Cystinosis -- Anikster et al. 119 (2): 394 -- Chest
		Photographs of patients with the distal myopathy of nephropathic cystinosis.
		The myopathy of cystinosis is not steroid induced, and it occurs
		of the vacuolar myopathy of cystinosis and the accompanying
	www.chestjournal.org /cgi/content/full/119/2/394 (3342 words)

	HIBM Research Group - Research Articles (Site not responding. Last check: 2007-10-30)
		The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews.
		Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: diseases of oxidative stress and aging?
		2001 - Yan C, Ikezoe K, Nonaka I. Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles.
	www.hibm.org /hrg/pages/welcome/research-articles.php (652 words)

	Muscular Dystrophy Canada \| Distal myopathy with rimmed vacuoles (Nonaka myopathy)
		disorder name: Distal myopathy with rimmed vacuoles (Nonaka myopathy)
		Limb-girdle muscular dystrophy type 2B (Allelic variant of Miyoshi myopathy)
		Miyoshi distal myopathy allelic to type 2B limb-girdle muscular dystrophy
	www.muscle.ca /content/index.php?id=558 (166 words)

	Distal Myopathy: Rottweiler (Site not responding. Last check: 2007-10-30)
		Four month old male rottweiler puppy with distal myopathy.
		Progressive weakness and gait abnormalities were present since the dog began to ambulate.
		A palmigrade and plantigrade stance, present from the time of initial ambulation, did not improve with maturation.
	www.neurovet.org /Shelton1/nmfig910cap.htm (73 words)

	Find in a Library: Myopathy of distal lower limbs: the clinical variant of Miyoshi
		Find in a Library: Myopathy of distal lower limbs: the clinical variant of Miyoshi
		Myopathy of distal lower limbs: the clinical variant of Miyoshi
		WorldCat is provided by OCLC Online Computer Library Center, Inc. on behalf of its member libraries.
	worldcatlibraries.org /wcpa/ow/6589fc7016726863a19afeb4da09e526.html (61 words)

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