Facioscapulohumeral Muscular Dystrophy, New Hope!

Muscular dystrophy connotes a genetic, muscle disease that causes progressive muscle weakness. Facioscapulohumeral muscular dystrophy is the second most prevalent muscular dystrophy affecting adults men, women and children. The major symptom is gradual weakening and loss of skeletal muscles. The usual location of these weaknesses at onset is the origin of the name: face (facio), shoulder girdle (scapulo) and upper arms (humeral). Early weaknesses of the muscles of the eye (open and close) and mouth (smile, pucker, whistle) are distinctive for FSHD. These symptoms, in combination with weaknesses in the muscles that stabilize the scapulae (shoulder blades), are often the basis of the physician�s diagnosis of FSHD.

In most cases, FSHD muscle involvement starts in the face and slowly progresses to the shoulder and upper arm muscles and then down to the abdominal and foot extensor muscles. Foot drop and foot weakness are early manifestations. Initial signs of FSHD include difficulty reaching above the shoulder level, foot drop, scapular winging and facial weakness. Weakness in the abdominal muscles can cause a protuberant abdomen and lumbar lordosis. The lower abdominal muscles are usually weaker than the upper abdominal muscles. This distribution of weakness is not seen in many other diseases and, therefore, is very specific to FSHD. Although the progression of FSHD is quite variable, it is usually relatively slow. With FSHD, most affected people develop unbalanced weaknesses. The reason for this asymmetry is unknown. In more than half of FSHD cases, there are other symptoms including high-frequency hearing loss and/or abnormalities of blood vessels in the back of the eye. Some patients with FSHD have respiratory insufficiency, especially those with severe FSHD.

Types of FSHD:
FSHD has been classified into two types: FSHD1A and FSHD1B. The symptoms are the same; the difference between the types is in their genetic locus. Infantile FSHD is a more severe form of FSHD1A and FSHD1B that has recently been categorized as a subtype of FSHD1A and FSHD1B. What makes the disease more severe has not yet been determined. Hearing loss, vision problems and seizures have been documented in Infantile FSHD.

Cause of FSHD:
An abnormality in a gene (called a deletion) causes FSHD. Most people who have the disease inherited the gene deletion from a parent. A gene deletion is passed from parent to child in a way that is called "autosomal dominant inheritance." This means that the parent (mother or father) with the gene deletion has a 50% chance of passing it to a child. Both sons and daughters are equally likely to be affected. Most people with the gene deletion develop symptoms; however, as many as one-third never develop the symptoms of FSHD. It is possible for an affected child to have normal parents for one of three reasons: 1) the parent with the gene deletion does not have symptoms; 2) a parent may have a very rare genetic condition in which all the cells in their body do not have the same genetic content; he or she may not have symptoms but can pass on FSHD if their sex cells happen to contain the deletion; or 3) neither parent has the gene deletion and it occurred spontaneously in the child. A spontaneous mutation only happens in 10 to 30% of people with FSHD.

Treatment: Treatment of FSHD is aimed to prolong survival and improve quality of life includes weight control to avoid obesity, Panch Karma procedures and stretching yogic exercises to encourage mobility and prevent contractures. The Mamsagni Rasayana- and Sukumar Guggal Rasayana (MR-SR) is new ayurvedic molecule developed by Dr Mukesh D. Jain of AMDS India after care through clinical research of over 15 years on Neuro-Muscular Diseases at Central Medical Institute Bhilai, India. Get more information in google link below:
Ayurvedic Til-Mash Pinda Swedana treatment along with Rasayana herbo-mineral resources should be investigated in the light of possible influence on Sarcolemma membrane and NF?B: blockade. In this context targeted research is needed to identify safe ayurvedic herbs, Yogic techniques and Panch karma procedures to further improve complementary approach of Ayurveda. The Ayurvedic program is useful in the long term management of muscular dystrophies. There is further need of controlled studies on a large scale with improved study design and assessment techniques.

Genetic Counseling:
Genetic counselors help individuals, families and couples affected by or at risk for FSHD to work through the process of genetic testing for the disease. Genetic counseling also helps individuals, families and couples as they plan to have a baby. Prenatal and in-vitro fertilization pre-implantation genetic (PGD IVF) tests are available for FSHD1A (chromosome 4 linked FSHD). Genetic counselors help couples consider possible scenarios and alternatives, such as having a child with FSHD, adoption or artificial insemination. In this way, couples arrive at a decision that is right for them.

Additional FSHD Information
� Ayush Samiti., India
Ayush Muscular Dystrophy Society India
Sanjivani 6/5 Priyadarshnai East, Supela
Bhilai CG 490023. Phone:(788) 229-2358

(ArticlesBase ID #1033653)
Ayush Samiti India

The Ayush Muscular Dystrophy Society is a registered charter of the Ayush Samiti, has been active in the field of authentic Ayurvedic supportive treatment and rehabilitation since 1995. A number of families of afflicted children are registered with AMD society, which is involved in helping families with information about all aspects of NMD including Ayurvedic and other complementary medical support, physiotherapy, diet, monitoring the breathing, and updates about what is new in the form treatments that may be in the pipeline.

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