TITLE

Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent

AUTHOR(S)

Tamhankar, Parag M.; Phadke, Shubha R.

PUB. DATE

May 2010

SOURCE

Neurology India;May/Jun2010, Vol. 58 Issue 3, p436

SOURCE TYPE

Academic Journal

DOC. TYPE

Article

ABSTRACT

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 groups affected (F-face, S-scapula, H-humeral, PG-pelvic girdle, P-peroneal, A-loss of independent ambulation): FSH-A (2), four FSH (4), SH (3), FSH-PG (2) and one: F (1). Progression of weakness was classified as F>S>P>PG in eight cases, S> F>P in one, static in three. Eleven patients had electromyographic findings suggestive of myopathy and one had features of neurogenic involvement. Molecular diagnosis was done by southern blotting using probe p13E-11 after digestion of genomic DNA with EcoRI and/or EcoRI/BlnI for twelve patients and three unaffected relatives. No EcoRI fragment smaller than 35 Kb was seen in unaffected subjects. Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families.

ACCESSION #

52651125

Tags: MUSCULAR dystrophy;  MUSCLES -- Diseases;  NEUROMUSCULAR diseases;  DYSTROPHY

 

Related Articles

• 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.

• 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.

• Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician. Spuler, Simone; Stroux, Andrea; Kuschel, Franziska; Kuhlmey, Adelheid; Kendel, Friederike // BMC Health Services Research;2011, Vol. 11 Issue 1, p91 

  Background: New therapeutic strategies in muscular dystrophies will make a difference in prognosis only if they are begun early in the course of the disease. Therefore, we investigated factors that influence the time to diagnosis in muscle dystrophy patients. Methods: A sample of 101 patients...

• Mutation Analysis in a Population-Based Cohort of Boys With Duchenne or Becker Muscular Dystrophy. Cunniff, Christopher; Andrews, Jennifer; Meaney, F. John; Mathews, Katherine D.; Matthews, Dennis; Ciafaloni, Emma; Miller, Timothy M.; Bodensteiner, John B.; Miller, Lisa A.; James, Katherine A.; Druschel, Charlotte M.; Romitti, Paul A.; Pandya, Shree // Journal of Child Neurology;Apr2009, Vol. 24 Issue 4, p425 

  The type and frequency of diagnostic testing was analyzed in a population-based cohort of boys with Duchenne muscular dystrophy or Becker muscular dystrophy. Use of muscle biopsy declined from 66.0% of boys born between January 1982 and September 1987 to 32.6% born between April 1999 and...

• Multiple Pilomatricomas and Myotonic Dystrophy. Street, Marcy L.; Rogers III., Roy S. // Journal of Dermatologic Surgery & Oncology;Sep91, Vol. 17 Issue 9, p728 

  Multiple pilomatricomas are rare. However, among patients 'with myotonic dystrophy, the occurrence is higher. The authors report a patient, to their knowledge the 11th case of multiple pilomatricomas associated with myotonic dystrophy, to emphasize that these tumors may be associated with...

• Myopathy presenting as developmental delay and short stature. Holt, K. M. // Journal of the Royal Society of Medicine;Jan1994, Vol. 87 Issue 1, p45 

  The article presents the medical case of 5-year-old girl who was diagnosed of having myopathic disease of the muscular dystrophy type. Several symptoms of myopathic disease include difficulty in getting up from the ground, abnormal gait and inability to run or dance. The girl's medical history...

• Leyden-Mobius muscular dystrophy. Peters, Michael // BMA A-Z Family Medical Encyclopedia;2004, p466 

  An encyclopedia entry for "Leyden-Mobius muscular dystrophy" is presented. It refers to a form of muscular dystrophy which affects the areas where the limbs join the body. Leyden-Mobius muscular dystrophy can occur in both men and women and it usually appears in childhood. The condition may...

• FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. Rijkers, T.; Deidda, G.; van Koningsbruggen, S.; van Geel, M.; Lemmers, R. J. I. F.; van Deutekom, J. C. I.; Figlewicz, D.; Hewitt, J. E.; Padberg, G. W.; Frants, R. R.; van Der Maarel, S. M. // Journal of Medical Genetics;Nov2004, Vol. 41 Issue 11, p826 

  Background: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome 4qter. This chromosome rearrangement may result in regional chromatin relaxation and transcriptional deregulation of gene nearby....

• Dysferlinopathies. Andoni, Urtizberea J.; Guillaume, Bassez; France, Leturcq; Karine, Nguyen; Martin, Krahn; Nicolas, L�vy // Neurology India;Jul2008, Vol. 56 Issue 3, p289 

  Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD...