Muscular Dystrophy

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Duchenne muscular dystrophy is an inherited muscular disorder that causes rapidly progressing muscle weakness.Duchenne muscular dystrophy is a fast-developing type of muscular dystrophy.

 


Other forms of muscular dystrophies like Becker’s muscular dystrophy do not get worse that rapidly.
Duchenne muscular dystrophy occurs as a result of a defective gene for a protein called dystrophin in the muscles. However, it also occurs in patients who have no family history of the disorder.
Because of the typical manner in which this disease is passed from one generation to the other, males have a higher tendency to develop it than women. A son of a woman, who is a carrier of the condition (woman with a defective gene, but without any symptoms), has a 50% chance of developing the disease. The possibility of daughters being carriers for the disease is about 50%.
The prevalence of Duchenne muscular dystrophy is about one in every 3,600 male infants. Since this is an inherited disease, the most common risk factor is the family history of the same.

Sign and Symptoms

The symptoms usually start appearing before the age of 6. They often appear as early as in infancy. The common symptoms include:
Mental retardation, which usually does not get worse over time
Fatigue

Weakness of the muscles

o Begins in the pelvis and the legs, but may also occur in the arms, the neck and other parts of the body with less intensity.
o Difficulty with motor skills such as hopping, running and jumping.
o Rapidly progressing weakness.
o Frequent falls.

Progressively increasing difficulty in walking

Ability to walk is often completely lost by the age of 12.

By the time the child turns 10, he or she may need braces for walking.

By the age of 12, most of them are confined to a wheelchair.

Exams and Tests

A complete examination of the nervous system (neurological), the lungs, the heart and the muscles may show:

Abnormalities associated with the cardiac muscles (cardiomyopathy).

Congestive cardiac failure or irregular cardiac rhythm (arrhythmias) in rare cases.

Deformities of the back (scoliosis) and the chest.

Enlargement of calf muscles that are later replaced by connective tissue and fats (pseudohypertrophy).

Wasting of muscles.

Muscle contractures in the legs and the heels.

Deformities in the muscles.

Respiratory diseases such as pneumonia and aspiration of fluids or food into the lungs (in advanced stages of the condition).

The following tests may be done:
Genetic tests
Electromyography (EMG)
Serum CPK
Muscle biopsy

DETAILS

Eligibility

  • Eligible Ages for Study: Any
  • Accepts Healthy Volunteers: No
  • Eligible Genders for Study: Both
  • Ethnicity and Race: Any

Inclusion Criteria

–       Above 2 years of age

–       Diagnosed with DMD after clinical evaluation, which is confirmed by increases in the level of a muscle enzyme – creatine kinase-, dystrophin analysis and muscle biopsy

–       Ability to walk at least barely at the time of selection

Exclusion Criteria

–   Inability to walk at least with support

–   History of development of symptoms before 2 years of age

–   Having serious respiratory or cardiac dysfunction

–  Having a family history of cerebral palsy or epilepsy

–  Under steroidal therapy in the past 6 months

–  Having a week immune system and/or autoimmune (self-immune) disorder

–   Having any additional diseases

–  Suffering from mental retardation or any psychiatric or psychological disorder

Basic Overview: Some basic principles that are to be followed before starting Regenerative Tissue Therapy (cells) infusion when frozen Regenerative Tissue Therapy (cells) are used are as follows:

–       The frozen Regenerative Tissue Therapy (cells) need to be thawed in a warm water bath at a temperature of 37o Celsius by constant agitation.

–       The Regenerative Tissue Therapy (cells) should not get exposed to bright light during the thawing process.

–       The Regenerative Tissue Therapy (cells) should be collected in a syringe using a wide bore needle. Usually, 18 No. needle is used for the collection. The wide bore needle ensures there is no damage to the fragile Regenerative Tissue Therapy (cells). The syringe should ideally be covered with a tape to avoid exposure to light.

–       The infusion needs to be given slowly over duration of 3 to 5 minutes in dim light. A 23 gauge needle should be used for the infusion.

–       It is important to keep a check for immediate transfusion reaction.

Dosage and route of administration of Regenerative Tissue Therapy (cells):

Depending on the individual case, the dose of Regenerative Tissue Therapy (cells) ranges between 30 and 100 million Regenerative Tissue Therapy (cells) to generate a positive response. A very low dose of 1 million can also be adequate to achieve a positive response.

We advise intravenous administration for most patients. But, in specific disorders and some special cases, we also advocate administration via intramuscular, intra-arterial, sub-arachnoid, subcutaneous, intrathecal, intraocular or sub-dural routes. Direct on-site delivery of the Regenerative Tissue Therapy (cells) exactly at the site of injury by direct on-site implantation or by using special interventional techniques may also be done.
The final decision regarding the dose and mode of infusion of Regenerative Tissue Therapy (cells) is taken after thorough deliberation, the extent of the ailment and the depending cause. It entirely depends on the individual case.

Allogenic Umbilical Cord derived

Every dose of umbilical Regenerative Tissue Therapy (cells) should be preceded by GM-CSF one day before Regenerative Tissue Therapy (cells) infusion. It should be given in a dose of 5 µ-grams per kg body weight in adult patients and 2.5 µ-grams per kg body weight in pediatric patients.

Route of administration of GM-CSF:

It can be given as subcutaneous injection under the skin or intravenously as an infusion into the vein.

How It Works

Recommended dose of Regenerative Tissue Therapy (cells):

About 32 to 80 million Mesenchymal Regenerative Tissue Therapy (cells) + 10 to 40 to million CD 34 + cells over one year of duration.
Duration : About 8-20 million MSCs + 2.5 to 10 million CD 34+ cells over 3 months of duration (concurrently with GCSF one day before Regenerative Tissue Therapy (cells)).

The approximate total dose of Regenerative Tissue Therapy (cells) should be 100-200 million so that an adequately favorable response is generated.

Treatment Details

Side effects of GM-CSF

Important points about the side effects of GM-CSF

– Most patients do not develop all of the listed side effects.

– Most often, these side effects are reversible and tend to go away after treatment is complete.

– Side effects are fairly predictable in terms of their onset and duration.

– There are several options that help to minimize or prevent these side effects.

– There is no correlation between the presence or intensity of side effects and the effectiveness of the medicine.

Commonly noted side effects of GM-CSF:

– After the 1st dose of GM-CSF, a patient may develop lightheadedness, hypotension, fast heart rate, flushing and feeling faint. This is known as “first-dose effect,” as it does not happen with future doses.

– Local reaction at the site of injection causes swelling, redness and tenderness

– Diarrhea

– Weakness and fatigue

Less common side effects

– Some flu-like symptoms including fever, generalized body aches, headache and fatigue

– Swelling in the hands and the feet

Points to understand in case of Regenerative Tissue Therapy (cells) obtained from umbilical cord lining or cord blood

– CD 34+ cells for the purpose of the discussion in this section are the cells compatible to hematopoetic cells carrying CD 34+ markers derived from cord blood after isolation by procedures such as magnetic bead or cell sorting method.

– Mesenchymal Regenerative Tissue Therapy (cells) for the purpose of the discussion in this section are cells compatible to total nucleated cells derived from the cord lining obtained after exhaustive processing.

Route of administration of Regenerative Tissue Therapy (cells)

Intravenous

Side effects of Regenerative Tissue Therapy (cells)

–       Mild Fever

–       Headache

–       Skin Rash

Quality Check

TThe cells are quality checked for the following standards of GLP and GMP:

HCV by ELIZA and PCR

Endotoxin content

HbsAG by ELIZA and PCR

CMV

HIV I AND II by ELIZA and PCR

Bacterial contamination

OR
Allogenic / Autologous therapy using Regenerative Tissue Therapy (cells) procured from placenta, amniotic fluid and / or amniotic sac

Diverse populations of progenitor cells like mesenchymal, trophoblastic and hematopoietic and several primitive Regenerative Tissue Therapy (cells) can be isolated from the placenta and the amniotic fluid. At least some of the cells derived from the amniotic fluid and the placenta have a common origin, the inner cell mass of the morula. It has been observed that most types of progenitor cells isolated from these 2 sources share multiple characteristics. The amniotic fluid and the placenta consist of several progenitor cell types from the developing embryo such as fat, muscle and bone.

Amniotic Sac (amniotic membranes) and Placenta:

After concurrently harvesting blood cells from placenta tissue (UPT), umbilical cord blood (UCB) and placenta blood (UPB) for their content of nucleated cells, CD34 (hematopoietic stem progenitor marker) positive cells, the final results showed that the nuclear cells derived from UPT and UPB possessed almost three to four times than those derived only from umbilical cord blood. The cells from UPB and UPT had more survival ability than the cells that were obtained from UCB (Cord Blood) when tested under long-term cell culture conditions. The cells stored in the liquid nitrogen did not show any significant loss of CD34 (+) cells and total nucleated cell count. It was seen that UPT and UPB had more suppressor lymphocytes, which is very important for the prevention of graft-versus-host disease. These implications point towards the importance of the collection of placental blood and tissue and simultaneous processing with umbilical cord blood for the Regenerative Tissue Therapy (cells) transplantation.

Amniotic fluid

Regenerative Tissue Therapy (cells) that are obtained from amniotic fluid can be utilized to differentiate into muscle, cartilage, bone, nerve, adipose tissue, blood vessel, etc.

These cells are a valuable source for the repair of cells, tissues or organs.

The Regenerative Tissue Therapy (cells) sourced from amniotic fluid are known as amniotic Fluid Derived Stem (AFS) cells. AFS cells denote the stage intermediate between the embryonic Regenerative Tissue Therapy (cells) and the adult ones. These cells have the ability of self-renewal, which is considered a defining property of Regenerative Tissue Therapy (cells). These cells are used to produce a wide range of cells that can be highly valuable for the therapy.

AFS cells are found in plenty in amniotic fluid that is obtained from a procedure, which is usually carried out to examine cells for prenatal detection of some genetic diseases. This procedure is known as amniocentesis. Childbirth is also a common source of amniotic fluid. The chances of getting a perfect match are higher because of its primitive nature.

AFS cells are found in plenty in amniotic fluid that is obtained from a procedure, which is usually carried out to examine cells for prenatal detection of some genetic diseases. This procedure is known as amniocentesis. Childbirth is also a common source of amniotic fluid. The chances of getting a perfect match are higher because of its primitive nature.

AFS cells offer several advantages as given below:

1) They can be obtained easily by performing amniocentesis.

2) As they have the ability to double every 36 hours, they can be grown in large amounts to produce huge quantities of Regenerative Tissue Therapy (cells).

3) There is no need of using either ‘Feeders’ or ‘Factors’ to guide them towards the desired cell line.

4)  AFS cellsdo not cause tumors. That is why; they are preferred over embryonic Regenerative Tissue Therapy (cells).

5) Specialized cells generated from AFS cells contain all three forms of cells existing in the developing embryo namely the ectoderm, the mesoderm and the endoderm. Hence, these cells can be differentiated into any organ, cell or tissue of the body.

6) As with embryonic Regenerative Tissue Therapy (cells), AFS cells also have the ability to generate all types of adult cells.

The project director advises using Regenerative Tissue Therapy (cells) obtained from placenta, amniotic fluid and / or amniotic sac. These cells should be processed carefully. They are then isolated and cultured in a clean room keeping in mind the GLP and GMP standards. They can be used for autologous as well as allogenic use just like the Regenerative Tissue Therapy (cells) sourced from cord blood or cord tissue, sometimes, concurrently with chelation and / or hyperbaric oxygen therapy after administering GM- CSF. The selection of Regenerative Tissue Therapy (cells), its dose, its route and mode of infusion and accompanying adjuvant or concurrent therapy differ on a case to case basis.

Route of administration of Regenerative Tissue Therapy (cells)

Intravenous

Side effects that may occur due to amniotic Regenerative Tissue Therapy (cells)

–       Rash

–       Headache

–       Mild Fever

Quality Check

The cells are quality checked for the following standards of GMP and GLP:

HCV by ELIZA and PCR

HIV I AND II by ELIZA and PCR

Endotoxin content

HbsAG by ELIZA and PCR

CMV

Bacterial contamination

Or

Autologous Bone Marrow derived Regenerative Tissue Therapy (cells)

–  Approximately 150 to 200 ml of bone marrow is collected in a blood bag under aseptic precautions. The procedure is performed in an OT after giving general anesthesia.

–   Regenerative Tissue Therapy (cells) are processed and isolated as per the GLP and GMP standards.

–   The final volume is 5 to 10 ml, which is then administered intravenously within 6 to 8 hours of the collection.

–   As the Regenerative Tissue Therapy (cells) cannot be checked for bacterial contamination, it is important to support the therapy with an antibiotic cover before the infusion.

Route of administration of Regenerative Tissue Therapy (cells)

Intravenous

Or

Autologous Regenerative Tissue Therapy (cells) from adipose tissue

–   About 150 to 200 ml of adipose tissue is obtained in a blood bag by performing liposuction. This procedure should be done preferably by a plastic surgeon in an OT after giving general anesthesia.

–       Regenerative Tissue Therapy (cells) should be processed and isolated under GMP and GLP standards.

–       The final volume of 5 to 10 ml is administered via intravenous route within 6 to 8 hours of its collection.

–       Since the Regenerative Tissue Therapy (cells) cannot be tested for possible bacterial contamination, an antibiotic cover before the infusion is necessary.

Route of administration: Intravenous.

Or

Autologous Regenerative Tissue Therapy (cells) derived from Peripheral Blood
–       The Regenerative Tissue Therapy (cells) should be collected by performing apheresis. It should be carried out in an ambient environment with the help of a programmed cell separator like Kobe Spectra or Hemonitics that provides the desired volume of Regenerative Tissue Therapy (cells) (about 200 to 250 ml) from the peripheral blood stream into a specially designed blood bag.

–       nitial infusion with GM-CSF (in a dosage of 5 µ-grams per kg body weight in an adult patient and 2.5 µ-grams per kg body weight in a pediatric patient) helps in ensuring optimum mobilization of the essential Regenerative Tissue Therapy (cells) from the bone marrow.

Route of administration: Intravenous.

Or

Autologous Regenerative Tissue Therapy (cells) derived from skin, small intestine, liver, cornea, teeth, etc.

–   The Regenerative Tissue Therapy (cells) can be obtained from these organs by performing sophisticated techniques for their isolation in an operation theater, after giving general anesthesia.

–       Regenerative Tissue Therapy (cells) are then processed and isolated as per GLP and GMP standards.

–       The final volume of 5 to 10 ml is administered via intravenous route within 6-8 hours of the collection.

–       As these Regenerative Tissue Therapy (cells) cannot be tested for bacterial contamination, it is essential that an antibiotic cover is provided prior to the infusion.

Route of administration: Intravenous.

Support Groups

You can reduce the stress of the illness by joining a support group where patients can share common problems and experiences. Check muscular dystrophy – support group. The Muscular Dystrophy Association is a very good source for information on this disease.

Outlook (Prognosis)

Duchenne muscular dystrophy causes rapidly worsening disability. It may lead to death by the age of 25, typically due to lung disorders.

Possible Complications of DMD

  • Deformities
  • Congestive cardiac failure (rare)
  • Cardiomyopathy
  • Mental impairment (varies, minimal in most cases)
  • Arrhythmias (rare)
  • Permanent, progressive disability
  • Reduced mobility
  • Reduced ability to take care of self
  • Respiratory infections like Pneumonia
  • Respiratory failure

When to contact a healthcare expert

You should contact your healthcare provider when:

•      Your child develops symptoms of Duchenne muscular dystrophy

•    The symptoms aggravate or new symptoms start appearing, such as fever, breathing difficulties or cough

Prevention

Genetic counseling is highly beneficial especially when there is a family history of the condition. DMD can be detected with almost 95% accuracy by performing genetic studies during pregnancy.

Alternative Names

Muscular dystrophy – Duchenne type; Pseudohypertrophic muscular dystrophy

PRECAUTION

Consulting

  • Before doing any treatment please consult your doctor to confirm if the treatment is the right one for you.
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