Bay Biosciences provides skeletal muscle biopsy tissue samples with matched K2EDTA plasma, sera (serum) and peripheral blood mononuclear cells (PBMC) biofluid samples from Duchenne muscular dystrophy patients.

Moreover, the plasma, serum and PBMCs are processed from Duchenne muscular dystrophy patient’s peripheral whole-blood using customized collection and processing protocols.


Duchenne Muscular Dystrophy (DMD) Overview

Duchenne muscular dystrophy (DMD) is a progressive muscle disorder that causes the loss of both muscle function and independence. This condition weakens skeletal and heart muscle that quickly gets worse with time. DMD is perhaps the most prevalent of the muscular dystrophies and is the most common lethal genetic disorder diagnosed during childhood.

Every year, approximately 20,000 children worldwide are born with DMD (one of every 3,500 male children).

Duchenne muscular dystrophy, or DMD, is associated with the most severe clinical symptoms of all the muscular dystrophies.

Most cases of DMD are inherited as an X-linked recessive trait (passed on through the mother, who is a carrier), but approximately 30% of cases are due to new genetic changes (mutations) that happen randomly and aren’t inherited.


Signs and Symptoms of Duchenne Muscular Dystrophy (DMD)

Symptoms of Duchenne muscular dystrophy (DMD) most often appear between the ages of 2 and 4 years, though they can begin as early as infancy or be noticed later in childhood.

DMD causes muscle weakness that worsens over time, so common symptoms include:

  • Fatigue
  • Calf muscle hypertrophy (increase in muscle size)
  • Difficulty climbing up stairs
  • Frequent falls
  • Progressive muscle weakness and atrophy (loss of muscle bulk) that begins in your child’s legs and pelvis. It occurs less severely in their arms, neck and other areas of their body
  • Toe walking
  • Difficulty walking that gets worse over time
  • Waddling gait (walk)

Other common symptoms of DMD include:

  • Breathing difficulties and shortness of breath
  • Cardiomyopathy 
  • Cognitive impairment and learning difficulties
  • Delayed speech and language development.
  • Short stature (height)
  • Development delays 
  • Scoliosis (spine curvature)

About 2.5% to 20% of children AFAB who are carriers of DMD may have symptoms that are usually milder.

Causes of Duchenne Muscular Dystrophy (DMD)

According to Muscular Dystrophy Association (MDA) a gene on the X chromosome that, when flawed (mutated), causes Duchenne, Becker, and an intermediate form of muscular dystrophies.

Duchenne muscular dystrophy (DMD) is caused by a change (mutation) in the gene that gives instructions for a protein called dystrophin. Dystrophin is a critical part of the dystrophin-glycoprotein complex (DGC), which plays an important role as a structural unit of muscle.

In DMD, both dystrophin and DGC proteins are missing, which ultimately leads to the death (necrosis) of muscle cells. Patients with DMD have less than 5% of the normal quantity of dystrophin needed for healthy muscles.

As patients with DMD get older, their muscles can’t replace the dead cells with new ones, and connective and adipose (fat) tissue gradually replaces muscle fibers.

Duchenne muscular dystrophy has X-linked recessive inheritance, but about 30% of cases happen spontaneously without a family history of the condition.

X-linked means the gene responsible for DMD is located on the X chromosome, one of two sex chromosomes. People AMAB have an X and Y chromosome, and people AFAB have two X chromosomes.

Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant or mutation) for a person to have the condition. Since people AMAB only have one X chromosome, if that chromosome has the genetic variant that causes DMD, they’ll have DMD.


Prevention of Duchenne Muscular Dystrophy (DMD)

As Duchenne muscular dystrophy (DMD) is an inherited condition, there’s nothing you can do to prevent it. About a third of cases happen randomly without a family history of the condition.

If you’re concerned about the risk of passing on DMD or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counselling. In some situations, prenatal testing may be able to diagnose DMD in early pregnancy.


Diagnosis of Duchenne Muscular Dystrophy (DMD)

In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Doctors may find pseudohypertrophy, lumbar spine deviation, gait abnormalities, and several grades of diminished muscle reflexes.

If the doctor suspects that the patient may have DMD, they’ll likely order the following tests:

  • Creatine Kinase Blood Test: The muscles in the body release creatine kinase when they’re damaged, so elevated levels may indicate DMD. Levels typically peak by age 2 and can be more than 10 to 20 times above the normal range.
  • Genetic Blood Test: A genetic blood test that looks for a complete or near-complete absence of the dystrophin gene can confirm the diagnosis of DMD.
  • Muscle Biopsy: The doctor may take a small sample of their muscle tissue from a muscle in their thigh or calf. A specialist will then look at the sample under a microscope to look for signs of DMD.
  • Electrocardiogram (EKG): As DMD almost always affects your heart, your child’s provider will likely perform an EKG to look for characteristic signs of DMD and to check the health of your child’s heart.


Treatment of Duchenne Muscular Dystrophy (DMD)

Currently there is no cure for Duchene muscular dystrophy (DMD), so the main goal of treatment is to manage symptoms and improve quality of life of the patient.

Supportive therapies for DMD include the following:

  • Corticosteroids: Corticosteroids, such as prednisolone and deflazacort, are beneficial for delaying muscle strength loss, improving lung function, delaying scoliosis, slowing the progression of cardiomyopathy (heart weakness) and prolonging survival.
  • Medication to treat cardiomyopathy: Early treatment with ACE inhibitors and beta blockers may slow the progression of cardiomyopathy and prevent the onset of heart failure.
  • Physical therapy: The main goal of physical therapy for DMD is to prevent contractures (permanent tightening of your muscles, tendons and skin). This usually involves certain stretching exercises.
  • Surgery to help treat scoliosis and contractures: Surgery to release contractures may be necessary for severe cases. Surgery to correct scoliosis may improve lung and breathing function.
  • Exercise: Your child’s healthcare provider will likely recommend gentle exercise to avoid muscle atrophy due to a lack of use. This is usually a combination of swimming pool and recreation-based exercises.

Other supportive therapies for DMD include the following:

  • Mobility aids, such as braces, canes and wheelchairs.
  • Tracheostomy and assisted ventilation for respiratory failure.

With improvement in supportive care over the years, the life expectancy of DMD has significantly improved over the past few decades.

There are many new drugs currently undergoing clinical testing that show promise in treating DMD. Some newer treatments that employ “exon skipping” (patching over a missing or mutated part of the dystrophin gene) have recently received FDA (Food and Drug Administration) approval.

These treatments are applicable only to a minority of cases that have very specific mutations. Although these treatments increase dystrophin protein amount in muscle, meaningful gain in strength and physical function has not yet been shown.


Prognosis of Duchenne Muscular Dystrophy (DMD)

The prognosis is often poor for patients with Duchenne muscular dystrophy (DMD). It leads to progressively worsening disability, and most children with DMD need to use a wheelchair by the age of 12. DMD ultimately results in death at an early age.


Life Expectancy of Duchenne Muscular Dystrophy (DMD) Patients

Patients with Duchene muscular dystrophy often die from the condition by the age of 25 years. However, advances in supportive care have resulted in many patients living longer.

Death often occurs as a result of respiratory (breathing) or heart complications. Other causes of death include pneumonia, aspiration (breathing in a foreign object, such as food) or airway obstruction.

Biospecimens

biospecimens

Bay Biosciences is a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens, and human bio-fluid collections.

Moreover, human biospecimens are available including tumor tissue, serum, plasma and PBMC samples from most other therapeutic areas.

Furthermore, Bay Biosciences maintains and manages its own biorepository, the human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and likewise normal healthy donors for controls. Additionally, available in all formats and types.

In fact, our biobank procures and stores fully consented, de-identified and institutional review boards (IRB) approved human tissue samples, human biofluids such as serum samples, plasma samples from various diseases and matched controls.

Also, all our human tissue collections, human biospecimens and human biofluids are provided with detailed, samples associated patient’s clinical data.

In fact, this critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers, and genetic information.

Additionally, researchers find the patient’s data associated with the human biospecimens extremely valuable and use it to help identify new effective treatments (drug discovery & development) in oncology, as well as in other therapeutic areas and diseases.

Bay Biosciences banks wide variety of human tissue samples and human biological samples, including fresh frozen human biospecimens cryogenically preserved at – 80°C.

For example fresh frozen tissue samples, tumor tissue samples, formalin-fixed paraffin-embedded (FFPE), tissue slides, with matching human bio-fluids, whole blood and blood-derived products such as human serum, human plasma and human PBMCs.

Bay Biosciences is a global leader in collecting and providing human tissue samples according to the specified requirements and customized, tailor-made collection protocols.

Please contact us anytime to discuss your special research projects and customized human tissue sample requirements.

Types of Biospecimens

Bay Biosciences provides human tissue samples (human specimens) and human biofluids from diseased and normal healthy donors which includes:

Moreover, we can also procure most human biospecimens and human biofluids, special collections and requests for human samples that are difficult to find. All our human tissue samples and human biofluids are procured through IRB-approved clinical protocols and procedures.

In addition to the standard processing protocols, Bay Biosciences can also provide human biofluids such as  human plasma, human serum, and human PBMCs bio-fluid samples using custom processing protocols; you buy donor-specific collections in higher volumes and specified sample aliquots from us.

Bay Biosciences also provides human biospecimens from normal healthy donors; volunteers, for controls and clinical research, Contact us Now.