Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent Tamhankar PM, Phadke SR Neurol India

Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent
Tamhankar PM, Phadke SR Neurol India

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.

Myotonic Dystrophy & FSHD Registry - University of Rochester Medical Center

Newsletters - Myotonic Dystrophy & FSHD Registry - University of Rochester Medical Center

Learn more about the Registry at the University of Rochester.

Read their past newsletters & see how you might get involved in a study and help advance FSH research.

Scientists develop new way to grow adult stem cells in culture

Scientists develop new way to grow adult stem cells in culture



Scientists develop new way to grow adult stem cells in culture
July 15, 2010

Researchers at the Stanford University School of Medicine have developed a technique they believe will help scientists overcome a major hurdle to the use of adult stem cells for treating muscular dystrophy and other muscle-wasting disorders that accompany aging or disease: They've found that growing muscle stem cells on a specially developed synthetic matrix that mimics the elasticity of real muscle allows them to maintain their self-renewing properties.

Research connection - FSHD Global

Research connection


Monash University
Research connection
July 2010

For Dr Lucy Burns, (MBBS 1993) supporting Monash research into Facioscapulohumeral muscular dystrophy (FSHD) is a cause close to her heart.

The President of the Victoria Branch of the FSHD Global Research Foundation and Monash medicine alumna is living with FSHD - the most common form of adult muscular dystrophy - and as an inherited disorder, there is a 50 per cent chance her children will grow up to develop the disease.

The foundation has donated $160,000 to Professor Christina Mitchell's team to analyse the levels and distribution of novel proteins that regulate muscle mass in human FSHD skeletal muscle samples, and to study muscle wasting in a mouse model of the disease.

Clinical trials

Clinical trials | Muscular Dystrophy Campaign

FSHD Clinical Trials Currently seeking participants.

FSHD standards of care and clinical trial readiness

FSHD is the third most common muscle disorder and although no definite cure exists, careful management of the symptoms can lead to significant improvements in quality of life. This workshop brought together patient representatives, clinicians and scientists to define standards of care and discuss what is needed to lay the foundation for future treatments. Recommendations were based on evidence, when available, or on the consensus of expert opinion.
Four main topics were discussed:

* Diagnosis
* Clinical management
* Clinical trial readiness
Future Plans

Read more at http://www.muscular-dystrophy.org/research/news/2481

Medical Marijuana: - FSH Pain Management

Cañon City Daily Record - Medical Marijuana: Pro vs. Con

There are 21,625 registered medical marijuana patients in the state as of Oct. 31, 2009, according to the Colorado Department of Public Health and Environment, which is tasked by statute with issuing medical marijuana licenses.

Katy Klingbeil, 36, of Buena Vista, is one of those patients.

Klingbeil suffers from Facioscapulohumeral Muscular Dystrophy, FHS. The disease has caused her to lose muscle in her upper arms, shoulders, jaw and back.

Effect of aerobic exercise training

Effect of aerobic exercise training and cognitive ... [BMC Neurol. 2010] - PubMed result

Abstract

ABSTRACT: BACKGROUND: In facioscapulohumeral dystrophy (FSHD) muscle function is impaired and declines over time. Currently there is no effective treatment available to slow down this decline. We have previously reported that loss of muscle strength contributes to chronic fatigue through a decreased level of physical activity, while fatigue and physical inactivity both determine loss of societal participation. To decrease chronic fatigue, two distinctly different therapeutic approaches can be proposed: aerobic exercise training (AET) to improve physical capacity and cognitive behavioural therapy (CBT) to stimulate an active life-style yet avoiding excessive physical strain.