What is a Chromosome? This diagram, called a karyotype, shows the chromosomes of a male (XY). A karyotype arranges the chromosomes into their 23 pairs. Just as genes come in pairs, chromosomes also come in pairs. Each cell in our body has 23 pairs of chromosomes (for a total of 46); one member of each pair is inherited from the mother and the other from the father. The first 22 pairs (numbered 1 through 22) are called autosomes and they determine most of our features. The last pair #23 and #24 are called the sex chromosomes and they determine if we are male or female. Females have two X chromosomes and males have one X chromosome and one Y chromosome. Our families disease or defect sits on the 5th Chromosome, Which is why the language Autosomal Dominant is used in conjunction with our form of MD. Taken from the Glossy of Duke University Med Autosomal dominant conditions require only one gene mutation to show themselves. When specialists use the term Autosomal dominant, they mean that the genetic mutation is on an autosome, one of the chromosomes that is not an X or a Y link. They also mean that the condition caused by the mutation can occur even if only one of the two paired, or one of either the male or female parent carries the mutation. It's a way of saying that the mutated gene is dominant over the normal gene. In Autosomal dominant disorders, the chance of having an affected child is 50 percent with each conception. Autosomal recessive conditions require two mutations or both parents to carry a mutated gene. We are the largest and only known Autosomal Dominant Family in the world linked to Chromosome "5". Along with a nasal quality in the speech of 50% of members, makes us rare and unique among the Muscular Dystrophies. What causes Limb Girdle Muscular Dystrophy? As stated above the gene is the blueprint for all life, In the process of conception a child inherits the DNA of both parents within the gene. At that moment you are predisposed to inherit the defective gene from either your father or mother, whom ever is the carrier in your family. As you begin to age the defect becomes more prominent and eventually wins the struggle of dominating the bodies natural defenses. This is when the breakdown of muscle begins. What exactly is Limb Girdle Muscular Dystrophy? It is a term used by the Dr’s and scientists to describe a cumulative number of Dystrophies. Muscular dystrophy is the name given to a group of genetic disorders marked by progressive weakness and degeneration of the skeletal, or voluntary, muscles that control movement. All Limb Girdle Muscular Dystrophies show similar patterns in the way they present themselves. The common links are, muscle weakness in the shoulder and hip regions. There are several types of LGMD, but we are only one of five dominant forms and are the largest families in the world with our diagnosis. The average age of onset for this particular group is between 18 and 35. What slowly begins to happen is, the muscles natural process of retaining protein for the muscles breaks down and protein then is pushed into the bloodstream. The muscles no longer retains the ability to carry it and without protein the muscles will die or ATROPHY In the early stages, you find symptoms such as difficulty climbing steps, lifting your hands above your head and difficulty getting off of the floor or standing up from a sitting position. The progression with our Linkous and Sheppard lines is a slow progression and it seems to manifest itself in different ways. Within one family you can have those who progress to a wheelchair usually by the age of 50,and yet others can have a milder form which results in being able to complete life while possibly only using a walker or cane. This disease does not care if you are male or female. It slowly breaks down the individuals muscle structure until noting is left to support the bodies weight. In the second Stage, you have what is called an elevated CK (Creatine Kinase) level. At this stage atrophy of the muscles has begun. This is usually characterized as very tight muscles that are had to the touch. Loss of strength in the shoulder girdle. Walking with your feet flat becomes difficult. The back begins to arch you usually begin to show a gait when you walk. I call this the waddle. Also at this stage it become very difficult to pull yourself from the floor or furniture. Falling seems to be common in this stage This seems to be the stage in which some people stay and progress no further. For those less fortunate is stage three. In the third stage, total atrophy of the body begins, stage three usually begins by not being able to walk unassisted. This could be from using a cane, walker, aid from another person, or using furniture to maneuver, as this stage progresses, the wheel chair becomes inevitable. Simple tasks such as climbing or descending step is gone. The hip Girdle slowly breaks down until it can no longer support the functions deemed necessary for supporting one own body weight. There have been many misdiagnoses with this line, from aliments such as Fibromyalgia, Rheumatoid Arthritis, Polymioitis, Myotonic Dystrophy, Duke University Medical center in Raleigh North Carolina has long been studying these families in order to help find a cure. As each generation passes, more and more family members are being diagnosed. It is not known as of yet, how to stop the progression or the spread of this disease. One suggestion is not to have children. Easier said then done. Since we are an ADULT form of Muscular Dystrophy, the symptoms usually do not show themselves until we are in our late 20’s, by then most of us have had children. In the case of my family, my mother had been misdiagnosed with Rheumatoid Arthritis. It was only after her death in 1994 at age 57, we discovered the truth. Since that time, Three of her children, Myself and two sisters have been positively diagnosed, and we now believe that two of our adult children will also test positive. In 1991 Duke University sent notices out that the location of the Gene for LGMD1 had been identified, thereby reducing the Gene's location from approx 3,300 positions to "7". In 1992 the localized position for the gene was narrowed to 5q22.3-31.3. In the following years, Duke was able to localize our Gene. In 1995 they were able to locate the diseased gene between #IL9- Dss187 In 1998 a mutation was found in the Myotilin gene that showed TRINUCLEOTIDE REPEAT which seems to be decreasing the Age of onset from age 38 in the 8th generation to 22 by the ninth and tenth generations. In 2001 they cloned the gene responsible for our form of Muscular Dystrophy. In localizing the gene, (once again this gene is identified as Myotilin a sarcomeric protein gene) they have found a candidate that is identified mainly in the skeletal and heart muscle. A two hybrid yeast analysis has shown that the skeletal and heart muscle is co-localized with the amino acid "a-actinin".The first 150 amino acids of Myotilin interact with a-actinin. this is where the mutation lies. The mutation is found in all the affected individuals who have been tested. DNA testing has finally provided what they have been looking for In 2002 they have identified a new Myotilin mutation in an Argentinean pedigree with LGMD1.The identification of two independent pedigrees with the same disease, each bearing a different mutation in the same gene, has long been the gold standard for establishing a causal relationship between defects in a gene and the resultant disease. As a description of the second known pedigree with LGMD1A, this finding constitutes that gold standard of proof that mutations in the myotilin gene cause LGMD1A. Family LGMD1 (#2654) is quite similar to that of the LGMD1A The great news for 2003. Through Genetic testing, very soon there will be the ability to use DNA to diagnose family members even before they have symptoms. This won't be through Dukes lab but through a diagnostic lab. The cost is yet to be determined but will certainly be in the 2-3 hundred dollar range at least. This testing will only be available for LGMD1A family since we are the only family in the world that to date has this form of Dominant MD, and due to the large number of sample blood donations throughout the years they have been able to continuously work on our study group. This information will be announced at this years "2003" Linkous Reunion in Blacksburg Va. Here shows a list of surnames and family lines that I have found in my research in identifying those family members affected with LGMD1A and their lines. This project has taken me a few years to put together and I am still working on it today. The principle behind this research is to find the common connection between these families. Not numbers or case studies but the actual families involved. I think I have found the connection. But in all fairness to others, this is my interoperation alone SURNAMES: LINKOUS,SHEPPARD,SHEPHERD,CLOWER,STEPHENSON,JONES,PECK,THOMAS, HUFFMAN,HIXSON,PREFATER,NESTOR,RICHARDSON,DUNCAN,MCGUIRE, ALLEN,DENNIS,PENNINGTON,CALDWELL,PRICE,COON,MCCOY, SMITH,FAIN,BAKER,PEARMAN,NOONKESTER,HAMBLIN,HALL,TAYLOR, BURTON,ELLIOT,BLANKENBACKER,BLANKINSHIP,STULTZ,OAKS,CROMER,CREAMER, FISHER,EARLY,WOOLWINE,SULLIVAN,PEDDYCORD,NESTER,SAUM, SHAFFER,HARTWELL,WOODY,CROY,HAZELWOOD,PERDUE,GILBERT,ANDERSON, MORCIE,HOLMES,STEWART,VISHER,ERB,SONGER,BOWDEN, PEARCE,EYERS,PRINCE,HENDERSON,GILBERT,DILLON. Please note: NOT all of these names have Muscular Dystrophy,They are related in one way or another to those who do.The family names above has a common Ancestry, That of Henry Linkous and three of his children,Gordon,Susan Etta Linkous Who marrie Joshra Shephard and Elizabeth Linkous who MarriedWilliam Thomas Linkous. Autosomal dominant conditions require only one gene mutation to show themselves. When specialists use the term Autosomal dominant, they mean that the genetic mutation is on an autosome, one of the chromosomes that is not an X or a Y link. They also mean that the condition caused by the mutation can occur even if only one of the two paired, or one of either the male or female parent carries the mutation. It's a way of saying that the mutated gene is dominant over the normal gene. In Autosomal dominant disorders, the chance of having an affected child is 50 percent with each conception. Autosomal recessive conditions require two mutations or both parents to carry a mutated gene.

On this page I'll provide a little information about who I am and what inspired me to do this research. Most of this information was probably obtained from talking to living relatives and from researching public records. In the course of doing this research, I've discovered that I have many more relatives than I ever thought possible!

This is a work in progress, so please contact me if you have any information that might help round out the picture.