Bay Biosciences provides high quality, clinical grade, fresh frozen biopsy tissue samples, FFPE tissue blocks with matched cryogenically preserved sera (serum), plasma, peripheral blood mononuclear cells (PBMC) biofluid samples from patients diagnosed with muscular dystrophy (MD).
The sera (serum), plasma and PBMC biofluid specimens are processed from muscular dystrophy patient’s peripheral whole-blood using customized collection and processing protocols. The muscular dystrophy biopsy tissue and matched biofluid samples are collected from unique patients diagnosed with muscular dystrophy and are provided to a valued pharmaceutical customer for research, diagnostics, discovery and drug development.
Detailed clinical data, patient’s history, symptoms, complete blood count (CBC), serology, MRI, biopsy tissue findings, histopathology information, elevated biomarker levels, genetic and metabolic information associated with the muscular dystrophy specimens is provided to a valued customer for research, development and drug discovery.
The muscular dystrophy sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluids are processed from patients peripheral whole-blood using customized collection and processing protocols.
Muscular Dystrophy Overview
Muscular dystrophy (MD) is a group of inherited diseases that damage and weaken the muscles over time resulting in consequent loss of strength.. This damage and weakness is due to the lack of a protein called dystrophin, which is necessary for normal muscle function. The absence of this protein can cause problems with walking, swallowing, and muscle coordination. Muscular dystrophy can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls.
The prognosis for muscular dystrophy depends on the type and the severity of symptoms. However, most patients with muscular dystrophy do lose the ability to walk and eventually require a wheelchair. There’s no known cure for muscular dystrophy.
Types of Muscular Dystrophy
Muscular dystrophy (MD) is a group of inherited diseases in which the muscles that control movement, known as voluntary muscles progressively weaken. Muscular dystrophy can also affect the heart and other organs.
Following are some of the major forms of muscular dystrophy:
- Myotonic Muscular Dystrophy: Myotonic is the most common form of muscular dystrophy in adults, it also called MMD or Steinert’s disease. Myotonic muscular dystrophy affects both men and women, and it can develop any time from early childhood to adulthood. Sometimes, myotonic dystrophy develops in newborns, which is also known as congenital MMD, which means prolonged spasm or stiffening of muscles after use. The symptoms usually get worse in cold temperatures. The disease causes muscle weakness and also affects the central nervous system (CNS), heart, gastrointestinal (GIT) tract, eyes, and hormone-producing glands. In most of the cases, daily life is not restricted for many years, but most patients with myotonic MD have lower life expectancy.
- Duchenne Muscular Dystrophy: The most common form of muscular dystrophy in children, Duchenne muscular dystrophy typically affects only males, it usually develops between the ages of 2 and 6. The muscles decrease in size and grow weaker over time yet may appear larger. Disease progression varies, but many patients with Duchenne dystrophy need a wheelchair by the age of 12. In most of the cases, the arms, legs, and spine become progressively deformed, and many patients have some type of cognitive impairment. In the later stages of the disease severe breathing and heart problems develop. Duchenne MD patients usually die in their late teens or early 20s and don’t live long life.
- Becker Muscular Dystrophy: This type of dystrophy is similar to Duchenne muscular dystrophy, but the disease is much milder and the symptoms of the disease appear later in life and progress more slowly. It usually appears between the ages of 2 and 16 but can sometimes also appear at later stage in life at around the as age 25. Like Duchenne muscular dystrophy, Becker muscular dystrophy usually affects only male patients and causes heart problems. The severity of the disease varies from patient to patient. Most of the patients with Becker muscular dystrophy can usually walk into their 30s and live further into adulthood of life.
- Limb-girdle: Limb-gridle type muscular dystrophy usually appears in patients in their teens to early adulthood and affects both males and female patients. Limb-girdle muscular dystrophy causes progressive weakness that begins in the hips and moves to the shoulders, arms, and legs. Within 20 years, walking becomes difficult or impossible. Limbe-gridle patients usually live to middle age to late adulthood.
- Facioscapulohumeral: Facioscapulohumeral muscular dystrophy refers to the muscles that move the face, shoulder blade and upper arm bone. Facioscapulohumeral appears in the teens to early adulthood and affects both male and female patients. It progresses slowly, with short periods of rapid muscle deterioration and weakness. The severity of the disease ranges from very mild to completely disabling. Walking, chewing, swallowing, and speaking problems can occur. About half of the patients with facioscapulohumeral muscular dystrophy can walk throughout their lives, and most live a normal life span.
- Congenital: Congenital means disease that is present at birth. Congenital muscular dystrophies progress slowly and affect both male and female patients. The two forms of Congenital muscular dystrophies that have been identified are Fukuyama and congenital muscular dystrophy with myosin deficiency. These cause muscle weakness at birth or in the first few months of life, along with severe and early contractures, shortening or shrinking of muscles that causes joint problems. Fukuyama congenital muscular dystrophy causes abnormalities in the brain and can cause seizures.
- Oculopharyngeal: Oculopharyngeal means eye and throat, this type form of muscular dystrophy appears in men and women patients in their 40s, 50s, and 60s. It progresses slowly, causing weakness in the eye and face muscles, which may lead to difficulty swallowing. Weakness in pelvic and shoulder muscles may occur later, causing choking and recurrent pneumonia develops in patients.
- Distal: Distal muscular dystrophy is a group of rare diseases that affects both adult male and female patients. Distal muscular dystrophy causes weakness and wasting of the distal muscles, those farthest from the center, of the forearms, hands, feet and lower legs. It is generally less severe, progresses more slowly, and affects fewer muscles than other forms of muscular dystrophy.
- Emery-Dreifuss: Emery-Dreifuss is a rare form of muscular dystrophy appears from childhood to the early teens and affects mainly male patients. Rarely female patients can also be affected, for that to happen, both of a girls X chromosomes, the one they get from their mother and the one from their father, would have to have the defective gene. It causes muscle weakness and wasting in the shoulders, upper arms, and lower legs. Life-threatening heart problems are common and can also affect carriers those who have the genetic information for the disease but do not develop the full-blown version (including mothers and sisters of those with Emery-Dreifuss MD). Muscle shortening (contractures) occurs early in the disease, weakness can also spread to chest and pelvic muscles. Emery-Dreifuss muscular dystrophy progresses slowly and causes less severe muscle weakness than some other forms of muscular dystrophy in patients.
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