Muscular+Dystrophy

=What is Muscular Dystrophy?=

Muscular Dystrophy is a genetic, hereditary muscle disease that causes progressive degenerative muscle weakness. It is characterized by skeletal muscle tissue weakness, defects in muscle proteins, and death of muscle tissue and cells. There are over 100 diseases classified as Muscular Dystrophy or are similar to muscular dystrophy. Most types of this disease are mult-system disorders in multiple body systems such as the heart, gastrointestinal, nervous systems, endocrine, glands, skin, eyes and other organs.

=Nine Diseases classified as Muscular Dystrophy= Duchenne, also known as DMD and [|Pseudohypertrophic], is caused by an absence of dystrophin, which is a protein that helps keep muscle cells intact and is onset in the early childhood at about 2 to 6 years. Symptoms include Generalized Weakness and muscle wasting first occuring in the hips, pelvic area, thighs and shoulders. The calves often become enlarged. It eventually effects all voluntary muscles, the heart and breathing muscles. It is rare to survive beyond 30 years of age. Becker MD is a less severe variant. It is inherited through a recessive x-link. It affects mostly boys who inherit this disease through their mothers. Women can carry DMD, but exhibit no symptoms.

Becker Muscular Dystrophy, or [|BMD], is caused by insufficient production of dystrophin, which keeps muscle cells intact. It is onset as either an adult or an adolescent. Symptoms include weakness or wasting first in the hip muscles, pelvic area, thighs and shoulders. Calves also become enlarged and is less severe as DMD. It can significantly involve the heart. It progresses slowly and varies but eventually affects all voluntary muscles. Many with BMD survive into mid- to late adulthood. It affects boys and men, who inherit the disease through their mothers. Women are often carriers but exhibit no symptoms.



Limb-girdle, or[| LGMD], is a mutation in at least 15 different genes that affect proteins necessary for muscle fuction. It becomes onset in childhood to adulthood. Symptoms include weakness and wasting first affecting the muscles around the shoulders and hips, which are the limb girdles. It progresses slowl with cardiopulmonary complications that can occur in later stages of the disease. It sometimes can be inherited from one parent or when a faulty gene is inherited from each parent.

[|Congenital Muscular Dystrophy], or CMD, usually shows itself at or near birth. It is caused by genetic mutations effected the proteins necessary for muscles and sometimes for the eyes and brain. Symotims include muscle weakness with possible joint stiffness or looeness. Depending on the type some othe rsymptoms can include spinal curvature, respiratory insufficiency, mental retardation or learning disability, eye defects or seizures. Progression can vary with type but are usually slowly progressive and some have a shorten life span. It sometimes is inherited from one parent, or can occur spontaneously because of a new genetic flaw.

Fascioscapulohumeral Muscular Dystrophy, or FSH, FSHD or [|Landouzy-Dejerine] is caued by the missing piece of DNA on chromosome 4 and becomes onset usually by age 20. Symptoms include weakness and wasting of muscles around the eyes, mouth, shoulders, upper arms and lower legs at first, then later weakness of abdominal muscles and sometimes hip muscles. It usually progresses slowly but sometimes rapidly. The disease can span decades. It can occur through inheritance from the mother or father, or it can occur without family history.

[|Myotonic Muscular Dystrophy] or MMD, Steinert Disease, dystrophia myotonica, or DM, is caused by a repeated section of DNA on either chomosome 19 or chromosome 3. It begins appearing at birth, but the most common form may begin in teen or adult years. Symptoms include weakness and muscle wasting first in the face, lower legs, forearms, hand and neck, with delayed in muscle relaxation after contraction. It can also cause problems in the gastrointenstinal system, in vision, the heart and also cause issues in the respiratory system. Learning disabilities occur in some cases, and Congenital myotonic dystrophy is the more severe form. Progression is slow and spans 50 to 60 years. The disease can be inherited through either the mother or father.

Oculopharyngeal or[| OPMD] is caused by a faulty gene for poly(A)-binding protein nuclear 1 (PABPN1), which due to this faulty gene causes extra chemical material that causes formation of clumps in the muscle cells. It's onset is usually not until the 40s or 50s and progresses slowly. Symptoms include weakness of muscles in the eyes or throat, with weakness of facial and limb muscles later. Swallowing problems and difficulty keeping the eyes open can occur. It is inherited from one parent or is inherited from each parents.

Distal or [|DD], affects the lower arms, hands, lower legs and feet and is caused by in any of at least eight genes that affect proteins necessary to the function of muscles. Its onset is either in childhood or adulthood and is slow progressing and not life threatening. Symptoms include weakness and wasting of hands, forearms and lower legs. It can be inherited from one parent or each parents. [|Emery-Dreifuss], or EDMD is caused by mutations in genes that produce emerin, lamin A or C, which are proteins in the membrane that surroungs the nucleus of each muscle cell. Its onset is usually by 10 years old. Symptoms include weakness and wasting of the shoulder, upper arm and calf muscles. It also causes joint stiffening and fainting due to cardiac abnormalties. It progresses slowly and due to cardiac complications sometimes require a pacemaker. It primarily affects males who inherit the disease from their mothers. It can be inherited from each parent or either parent, depending on the circumstance.

=History= The disease first was discovered in 1830 when Sir Charles Bell wrote an essay on progressive weakness in young boys. Six years later, more cases were discussed on weakness of young males. At first, many thought these were just signs of Tuberculosis. In the next decade Guillaume Duchenne gave accounts of 13 boys with severe conditions due to the disease. A type of MD was later named after him.

=Other symptoms=


 * poor balance


 * frequent falls


 * walking difficulties and waddling type of walk


 * drooping eyelids (ptosis)


 * Scoliosis


 * Arrythmias of the heart

=Diagnosis= It is diagnosed through muscle biopsies and sometimes a DNA blood test. Also, phsycial examinations can be done to determine if there is major muscle wasting called pseudohypertrophy, which can be hidden by fat masses.

=Treatment= There is no cure or treatment for MD. However, physcial therapy can be beneficial and also medications such as quinine can help. But, no long term treatments have shown to help slow the affects of the disease.