Citations with the tag: DYSTROPHY
Results 1 - 50
- What is muscular dystrophy?
Wood-Young, Jennie C. // Current Health 2; Mar1993, Vol. 19 Issue 7, p30
Discusses Muscular Dystrophy (MD). Myotonic dystrophy or Steinert's disease; Duchenne dystrophy; Genetic aspect; Diagnosis of MD; Degree and speed of muscle weakening; Special camps during summer. INSET: A new procedure brings hope (myoblast transfer)..
- When a friend has muscular dystrophy.
Wood-Young, Jennie C. // Current Health 1; May93, Vol. 16 Issue 9, p20
Discusses people with muscular dystrophy (MD), who because of weakened muscles cannot walk and run like everyone else, but they usually can think and laugh like everyone else. People born with MD; Not contagious, like a cold; Nine kinds of MD; Most common childhood kind Duchenne dystrophy; MD...
- Muscular dystrophy.
Wood-Young, Jennie C. // Nutrition Health Review: The Consumer's Medical Journal; Spring90, Issue 54, p4
Answers queries about the different types of muscular dystrophy (MD) diseases. Various forms of MD nutritional therapy; Progress in pharmaceutical treatment; Common factors among MD diseases; Credence of `free radical' theory of MD in orthodox medicine research.
- Abstracts of recent literature.
Edelstein, Joan // Journal of Rehabilitation Research & Development; Nov94, Vol. 31 Issue 4, p367
Presents an abstract of an article entitled `Amputation and Reflex Sympathetic Dystrophy,' by J.H.B. Geertzen and W.H. Eisma, reprinted from the 1994 issue of `Prosthetics and Orthotics International.'
- Muscular Dystrophy Foundation of Indiana.
Edelstein, Joan // Indianapolis Business Journal; 8/26/96, Vol. 17 Issue 23, p34C
Presents a corporate profile of Muscular Dystrophy Foundation of Indiana. Contact information; Mission statement; Management; Board of directors; Program; Financial profile.
- Muscular Dystrophy Foundation Inc.
Edelstein, Joan // Indianapolis Business Journal; 09/29/97, Vol. 18 Issue 28, p57A
No abstract available.
- Etiology and Pathophysiology of Autistic Behavior: Clues From Two Cases With an Unusual Variant of Neuroaxonal Dystrophy.
Weidenheim, Karen M.; Goodman, Linda; Dickson, Dennis W.; Gillberg, Christopher; R�stam, Maria; Rapin, Isabelle // Journal of Child Neurology; Nov2001, Vol. 16 Issue 11, p809
Two unrelated individuals with autistic behavior had numerous swollen axon terminals (spheroids) located in specific brain regions relevant to their behavioral symptoms. Spheroids are characteristic of neuroaxonal dystropy, but the clinical profile and anatomic distribution of the lesions in...
- Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector.
Greelish, James P.; Su, Leonard T.; Lankford, Edward B.; Burkman, James M.; Chen, Haiyan; Konig, Stephane K.; Mercier, Isabelle M.; Desjardins, Philippe R.; Mitchell, Marilyn A.; Zheng, Xiang guang; Leferovich, John; Gao, Guang Ping; Balice-Gordon, Rita J.; Wilson, James M.; Stedman, Hansell H. // Nature Medicine; Apr99, Vol. 5 Issue 4, p439
Limb-girdle muscular dystrophies 2C-F represent a family of autosomal recessive diseases caused by defects in sarcoglycan genes. The cardiomyopathic hamster is a naturally occurring model for limb-girdle muscular dystrophy caused by a primary deficiency in d-sarcoglycan. We show here that acute...
- Investigating sensory processing patterns in boys with Duchenne muscular dystrophy using the Sensory Profile.
Backhouse, Mathilde; Harding, Leith; Rodger, Sylvia; Hindman, Natalie // British Journal of Occupational Therapy; Jun2012, Vol. 75 Issue 6, p271
Objectives: This exploratory study investigated the sensory processing patterns of boys with Duchenne muscular dystrophy (DMD) using the Sensory Profile. It was hypothesised that this group would be different to a typically developing sample of American children in the normative sample of the...
- SEPTEMBER IS MUSCULAR DYSTROPHY AWARENESS MONTH.
Backhouse, Mathilde; Harding, Leith; Rodger, Sylvia; Hindman, Natalie // Canadian Nurse; Sep2012, Vol. 108 Issue 7, p10
The article presents some numbers about muscular dystrophy since September is muscular dystrophy awareness month; 0 number of specific treatments available for muscular dystrophy, 1 in 8,000 people worldwide affected by myotonic dystrophy and 14 the age at which 82 percent of boys with Duchenne...
- REVERSIBLE DYSPHAGIA IN FACIOSCAPULOHUMERAL DYSTROPHY CAUSED BY MYASTHENIA GRAVIS.
Bacsi, AM; Ginsberg, L; Orrell, RW // Journal of Neurology, Neurosurgery & Psychiatry; Mar2008, Vol. 79 Issue 3, p358
An abstract of the article "Reversible Dysphagia in Facioscapulohumeral Dystrophy Caused by Myasthenia Gravis" by A. M. Bacsi, L. Ginsberg, and R. W. Orrell is presented.
Bacsi, AM; Ginsberg, L; Orrell, RW // Journal of Medical Genetics; Jun2007, Vol. 44 Issue 6, p407
A correction to the article "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations" that was published in a previous 2007 issue is presented.
- Mutation in nuclear membrane protein causes Emery-Dreifuss muscular dystrophy.
Dale, David C.; Federman, Daniel D. // Cortlandt Forum; 11/25/97, Vol. 10 Issue 11, p21
Reports on the cause of Emery-Dreifuss muscular dystrophy. Muscular involvement; Diagnosis of the disease.
- Association of keratoconus and Avellino corneal dystrophy.
Igarashi, S.; Makita, Y.; Hikichi, T.; Mori, F.; Hanada, K.; Yoshida, A. // British Journal of Ophthalmology; Mar2003, Vol. 87 Issue 3, p367
Examines the association between keratoconus and Avellino corneal dystrophy. Molecular genetic analysis; Ultrasonic pachymetry; Polymerase chain reaction.
- Muscular Dystrophy Foundation of Indiana.
Igarashi, S.; Makita, Y.; Hikichi, T.; Mori, F.; Hanada, K.; Yoshida, A. // Indianapolis Business Journal; 11/27/95, Vol. 16 Issue 36, p35A
Presents information on the Muscular Dystrophy Foundation of Indiana. History; Financial profile; Management; Board of directors; Programs offered.
- Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse.
Menke, A.; Jockusch, H. // Nature; 1/3/1991, Vol. 349 Issue 6304, p69
Demonstrates that functional dystrophin contributes to the stability of both cultured myotubes and isolated mature muscle fibers. Uses hypo-osmotic shock to determine stress resistance and a mouse model for the human disease.
- Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive...
Matsumura, Kiichiro; Tome, Fernando M.S. // Nature; 9/24/1992, Vol. 359 Issue 6393, p320
Investigates the possibility that a deficiency of a dystrophin-associated protein could be the cause of severe childhood autosomal recessive muscular dystrophy (SCARMD), with a Duchenne muscular dystrophy (DMD)-like phenotype. Loss of a particular glycoprotein as a common denominator of the...
- Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.
Harley, H.G.; Brook, J.D. // Nature; 2/6/1992, Vol. 355 Issue 6360, p545
Discusses myotonic dystrophy, the commonest adult form of muscular dystrophy, and presents a study which isolates a human genomic clone that detects novel restriction fragments specific to individuals with myontonic dystrophy. A two-allele EcoRIpolymorphism; Indications that most cases are...
- Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.
Buxton, J.; Shelbourne, P. // Nature; 2/6/1992, Vol. 355 Issue 6360, p547
Discusses myotonic dystropy, the most common form of adult muscular dystrophy, and reports on the isolation of an expressed sequence from genetic markers ERCC1 proximally and D19S51 distally which detects a DNA fragment that is larger in affectedindividuals than in normal siblings or unaffected...
- The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy.
Stedman, H.H.; Sweeney, H.L. // Nature; 8/8/1991, Vol. 352 Issue 6335, p536
Presents research that shows that the mdx mouse diaphragm exhibits a pattern of degeneration, fibrosis and severe functional deficit comparable to that of Duchenne muscular dystrophy limb muscle. Methods; Results; Discussion.
Stedman, H.H.; Sweeney, H.L. // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p712
A definition of the term "dystrophia," which refers to dystrophy, is presented.
- Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner, Reginald E.; Anderson, Louise V.B.; Burkhardt, Elke; Bashir, Rumaisa; Vafiadaki, Elizabeth; Ivanova, Silva; Raffelsberger, Thomas; Maerk, Isabel; H�ger, Harald; Jung, Martin; Karbasiyan, Mohsen; Storch, Maria; Lassmann, Hans; Moss, Jennifer A.; Davison, Keith; Harrison, Ruth; Bushby, Kate M.D.; Reis, Andr� // Nature Genetics; Oct99, Vol. 23 Issue 2, p141
Focuses on the dysferlin deletion in mice defining a natural model for limb girdle muscular dystrophy. Histopathological examinations of muscles in the mice of different ages and sources disclosing features compatible with a progressive muscular dystrophy; Dystrophic and inflammatory changes in...
- Labor to do more for MD cure.
Winston, Paul D. // Business Insurance; 8/27/2001, Vol. 35 Issue 35, p21
Focuses on muscular dystrophy and efforts to help children afflicted with the disease in the United States. Annual Muscular Dystrophy Association's Labor Day Telethon; Legislation authorizing more funds for aggressive research and establish national research centers for the disease.
- Decreased Total Nitric Oxide Production in Patients with Duchenne Muscular Dystrophy.
Kasai, Takefumi; Abeyama, Kazuhiro; Hashiguchi, Teruto; Fukunaga, Hidetoshi; Osame, Mitsuhiro; Maruyama, Ikuro // Journal of Biomedical Science; Jul/Aug2004, Vol. 11 Issue 4, p534
Plasma nitric oxide (NO) levels in Duchenne muscular dystrophy (DMD) patients were significantly lower than those observed in both healthy controls and in patients with other neuromuscular disorders. The correlation between NO level and ejection fraction was significant (r = �0.384, p =...
- Duchenne's Legacy.
Sorbie, Charles // Orthopedics; Jan2004, Vol. 27 Issue 1, p13
Discusses research on Duchenne's muscular dystrophy. Reference to a study by Byrne et al., published in a 2003 issue of the "Medical Journal of Australia"; Study methods; Results.
- Diagnosis and new treatments in muscular dystrophies.
A Y Manzur // Postgraduate Medical Journal; Nov2009, Vol. 85 Issue 1009, p622
Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle muscular dystrophies (LGMD) represent a significant proportion of paediatric and adult neuromuscular neurology practice. The proactive symptom-based multidisciplinary team (MDT) management and access to...
- Becker's muscular dystrophy.
Peters, Michael // BMA A-Z Family Medical Encyclopedia; 2004, p92
An encyclopedia entry for "Becker's muscular dystrophy" is presented. It refers to one type of muscular dystrophy.
- Duchenne's dystrophy.
Peters, Michael // BMA A-Z Family Medical Encyclopedia; 2004, p248
A definition of the term "Duchenne's dystrophy" is presented. It refers to the most common and severe form of muscular dystrophy.
- Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.
Garg, Ajay; Gulati, Sheffali; Gupta, Vipul; Kalra, Veena // Neurology India; Dec2004, Vol. 52 Issue 4, p496
Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with...
- Goodwill Ambassador Tours for Muscular Dystrophy.
Webb, Marion // San Diego Business Journal; 03/27/2000, Vol. 21 Issue 13, p42
Profiles Lauren Carter, the eight-year-old goodwill ambassador of the Muscular Dystrophy Association (MDA). Carter's role in promoting awareness about muscular dystrophy in the United States; Reasons of the MDA for selecting Carter; MDA-sponsored events to be attended by Carter.
- A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse Chromosome 1.
Matsushima, Yoshibumi; Kikuchi, Tateki; Kikuchi, Hisae; Ichihara, Nobutsune; Ishikawa, Akira; Ishijima, Yasushi; Tachibana, Masayoshi // Mammalian Genome; Feb2005, Vol. 16 Issue 2, p73
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive hereditary neurodegenerative disease of humans. So far, no responsible gene has been cloned or mapped to any chromosome. For chromosome mapping and positional cloning of the responsible gene, establishment of an animal model...
- Extraocular muscles spared in muscular dystrophy.
Porter, John D. // Ophthalmology Times; 06/01/99, Vol. 24 Issue 11, p4
Discusses the Duchenne muscular dystrophy (DMD) for ocular motility problems in children. Pathophysiology of DMD; Importance of dystrophin-glycoprotein complex (DGC); Compensatory mechanism of extraocular muscles for the loss of components of DGC.
- Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent.
Tamhankar, Parag M.; Phadke, Shubha R. // Neurology India; May/Jun2010, Vol. 58 Issue 3, p436
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12 affected members (male:female-7:5). Mean age at onset of weakness was 17.63 + 5.48 years. Patients were classified according to muscle...
- Diagnosis and Infant Screening for Duchenne Muscular Dystrophy: Parents' Experiences and Attitudes.
Hoffman, C.; Tsipis, J.; Hawley, P. // Journal of Genetic Counseling; Dec2002, Vol. 11 Issue 6, p497
Discusses the abstract of the study 'Diagnosis and Infant Screening for Duchenne Muscular Dystrophy: Parents' Experiences and Attitudes,' presented at the 21st Annual Education Conference of the National Society of Genetic Counselors held in Phoenix, Arizona in November 2002.
- The Becker type X-linked muscular dystrophy.
Hoffman, C.; Tsipis, J.; Hawley, P. // British Medical Journal; 12/18/1976, Vol. 2 Issue 6050, p1465
Examines the different forms of muscular dystrophy in Great Britain. Difficulties brought by Duchenne muscular dystrophy; Comparison between Duchenne and Becker muscular dystrophy; Presence of cardiomyopathy in Duchenne muscular dystrophy.
- Wasting away.
Farrell, Alison // Nature Medicine; Dec2005, Vol. 11 Issue 12, p1285
The article focuses on the role of dystrophin glycoprotein complex, one of the players in muscular dystrophy, in cancer cachexia. The complex forms a bridge between the cytoskeleton and the extracellular matrix to protect muscle cells from injury when they contract. Researchers found that...
- Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.
Pandey, G.S.; Kesari, A.; Mukherjee, M.; Mittal, R.D.; Mittal, B. // Neurology India; Sep2003, Vol. 51 Issue 3, p367
The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients....
- Duchenne muscular dystrophy: how bad is the heart?
McNally, Elizabeth M. // Heart; Aug2008, Vol. 94 Issue 8, p975
The article reflects on some issues regarding the status of the heart during duchenne muscular dytrophy (DMD). It talks about the complete loss of dytrophin and the loss of dystrophin protein in the majority of DMD-associated mutations. The treatment of skeletal muscle diseases in DMD is also...
- facioscapulohumeral dystrophy.
Orrell, Richard W. // Practical Neurology; Aug2004, Vol. 4 Issue 4, p238
Focuses on the diagnosis of facioscapulohumeral dystrophy. Weakness in muscles of the face, shoulder girdle, and upper arms; Diagnosis on a blood sample; Identification of a reduced number of large repeats on chromosome through DNA analysis.
- Sarcoglycanopathies: An enigmatic form of muscular dystrophy - A report of 7 cases.
Sharma, M. C.; Mannan, R.; Singh, N. G.; Gulati, S.; Kalra, V.; Sarkar, C. // Neurology India; Dec2004, Vol. 52 Issue 4, p446
Background: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and sarcoglycanopathy is one of the causes of LGMD. There is only one study on sarcoglycanopathies in the Indian literature. No data is available from northern India. Materials and...
- IN MATTIE'S MEMORY.
Stepanek, Jeni // People; 7/12/2004, Vol. 62 Issue 2, p4
Presents a letter to the editor regarding the role of the Muscular Dystrophy Association of American in collecting donations for children with neuromuscular diseases.
- Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Fischer, Dirk; Walter, Maggie C.; Kesper, Kristina; Petersen, Jens A.; Aurino, Stefania; Nigro, Vincenzo; Kubisch, Christian; Meindl, Thomas; Lochmüller, Hanns; Wilhelm, Kai; Urbach, Horst; Schröder, Rolf // Journal of Neurology; May2005, Vol. 252 Issue 5, p538
Mutations in the fukutin-related protein (FKRP) have recently been demonstrated to cause limb girdle muscular dystrophy type 2I (LGMD2I), one of the most common forms of the autosomal recessive LGMDs in Europe. We performed a systematic clinical and muscle MRI assessment in 6 LGMD2I patients and...
- A Novel Mutation in a Large French-Canadian Family with LGMD1B.
Chrestian, Nicolas; Valdmanis, Paul N.; Echahidi, Najmeddine; Brunet, Denis; Bouchard, Jean-Pierre; Gould, Peter; Rouleau, Guy A.; Champagne, Jean; Dupré, Nicolas // Canadian Journal of Neurological Sciences; Jul2008, Vol. 35 Issue 3, p331
Background: Limb girdle muscular dystrophy type 1B is an autosomal dominant disease characterized by late onset proximal muscle involvement associated with cardiac complications such as atrioventricular conduction blocks, dilated cardiomyopathy, and sudden death. Objective: Define the full...
- İki Olgu Nedeniyle Disferlinopati.
Eryaşar, Gaye; Seçil, Yaprak; Beckmann, Yeşim; Kendir, Ayşen İnceoğlu; Diniz, A. Gülden; Başoğlu, Mustafa // Turkish Journal of Neurology / Turk Noroloji Dergisi; Mar2011, Vol. 17 Issue 1, p45
Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes [Miyoshi myopathy (MM) and limb-girdle muscular dystrophy (LGMD 2B)] and results from a mutation in the gene that codes dysferlin protein (DYSF gene, 2p13). In this report, we present two cases with...
- The Unstable CCTG Repeat Responsible for Myotonic Dystrophy Type 2 Originates from an AluSx Element Insertion into an Early Primate Genome.
Kurosaki, Tatsuaki; Ueda, Shintaroh; Ishida, Takafumi; Abe, Koji; Ohno, Kinji; Matsuura, Tohru // PLoS ONE; Jun2012, Vol. 7 Issue 6, p1
Myotonic dystrophy type 2 (DM2) is a subtype of the myotonic dystrophies, caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the zinc finger protein 9 (ZNF9) gene. The expansions are extremely unstable and variable, ranging from 75-11,000 CCTG repeats. This unprecedented repeat...
- complex regional pain syndrome, type 1.
Kurosaki, Tatsuaki; Ueda, Shintaroh; Ishida, Takafumi; Abe, Koji; Ohno, Kinji; Matsuura, Tohru // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p500
A definition of the term "type 1 complex regional pain syndrome" is presented.
- complex regional pain syndrome, type 2.
Kurosaki, Tatsuaki; Ueda, Shintaroh; Ishida, Takafumi; Abe, Koji; Ohno, Kinji; Matsuura, Tohru // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p500
A definition of the term "type 2 complex regional pain syndrome" is presented.
- Becker muscular dystrophy.
Kurosaki, Tatsuaki; Ueda, Shintaroh; Ishida, Takafumi; Abe, Koji; Ohno, Kinji; Matsuura, Tohru // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p252
An encyclopedia entry for "Becker muscular dystrophy," which is a form of muscular dystrophy characterized by inadequate production of dystrophin, is presented.
- Letter to the Editor: Overexpression of Myostatin2 in zebrafish reduces the expression of dystrophin associated protein complex (DAPC) which leads to muscle dystrophy.
Rodgers, Buel D. // Journal of Biomedical Science; Nov2008, Vol. 15 Issue 6, p841
A letter to the editor is presented in response to the article "Overexpression of Myostatin 2 in Zebrafish Reduces the Expression of Dystrophin Associated Protein Complex (DAPC) Which Leads to Muscle Dystrophy," by Amali et al. in the May 6, 2008 issue.
- Response to a Letter to the Editor from Rodgers regarding �Overexpression of Myostatin2 in zebrafish reduces the expression of dystrophin associated protein complex (DAPC) which leads to muscle dystrophy�.
Anusha Amali, Aseervatham; Ji-Fan Lin, Cliff; Yi-Hsuan Chen; Wei-Lun Wang; Hong-Yi Gong; Rekha, Ravikumar Deepa; Jenn-Khan Lu; Chen, Thomas T.; Jen-Leih Wu // Journal of Biomedical Science; Nov2008, Vol. 15 Issue 6, p843
A response by Amali et al. to a letter to the editor about their article "Overexpression of Myostatin2 in Zebrafish Reduces the Expression of Dystrophin Associated Protein Complex (DAPC) Which Leads to Muscle Dystrophy" is presented.