Diagnostics

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Genetic testing is the best way to confirm a diagnosis in a patient with signs or symptoms suggestive of a genetic disease. Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person’s risk of developing a disease. Genetic testing (using blood cells – noninvasive method) is the best way to obtain exact genetic information for a conclusive Duchenne diagnosis. The field of genetic testing is rapidly evolving, and there are several types of testing that provide accurate genetic diagnosis. Testing for dystrophin gene deletions with the use of DNA-based technology is now the preferred diagnostic test for Duchenne Muscular Dystrophy when clinical signs and symptoms suggest the diagnosis. A muscle biopsy is needed, only if the DNA-based test is negative. A negative test occurs in about 30 percent of patients with Duchenne muscular dystrophy because some mutations in the dystrophin gene are not detected by PCR (Polymerase Chain Reaction) & MLPA (Multiplex Ligation Probe Amplification) techniques.

We at MDCRC have been offering genetic diagnosis for the past 6 years. The most striking feature is that at MDCRC our procedures are purely non-invasive. All our methods/techniques are as per Best Practice Guidelines.

1. Patients will be sent to us for genetic diagnosis based on their clinical diagnosis for DMD referred by a clinician.

2. 3-5 ml of blood is collected aseptically (as per Standard Operating Procedures-SOP) using EDTA vacutainer (purple cap) and labeled with appropriate details.

 

Dr.Lakshmi @ Best Practise Guidelines Meet for DMD, Nov 2008

 

Deletions Involving One Or More Exons Of The DMD Gene

1. ~65% of males with DMD have deletions

2. Most deletions occur in two hotspots clustered around the first 20 exons and around exons 45 to 55.

3. Testing is done by PCR for 30 exons (as per SOP)

4. Turn-around time for reports will be within 2 to 3 weeks

Duplications Of One Or More Exons Of The DMD Gene

1. ~6% of males with DMD have a duplication

2. Testing is done by MLPA exons (as per SOP)

3. Turn-around time for reports will be 2 months.

Other Mutations In The DMD Gene

1. ~30% of males with DMD have other mutations including small deletions or insertions, single base changes, or splicing mutations

2. Analysis is available on a research basis only

Carrier Testing For DMD Gene Using Gene Dosage Method

1. ~30% of females are carriers as per Indian & global data

2. Testing is done by MLPA

3. Turn-around time for reports will be 27 days.

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Physiatrist

  • Vital link between the medical team and the rehabilitation team
  • Disease progression of the child was evaluated individually
  • Holistic approach to management considering the rehabilitation needs of the patient while developing a treatment plan
  • Focus on strategies to prevent complications
  • Prescribe Orthotics according to child’s need
  • Rehabilitation and education combined in a personalized program that maximize each patient’s residual abilities

Respirative Care

As a result of dystrophin deficiency, patients with DMD experience a progressive loss of muscle fibre that eventually affects the respiratory muscles. The resulting respiratory failure is the most common cause of premature death in patients with DMD.

Respiratory muscles are progressively compromised in children with DMD, the expiratory muscles being the most commonly affected. Even short periods of physical inactivity can contribute to muscle weakness and reduced respiratory capacity. There is evidence that breathing exercises can improve respiratory function in patients with DMD.

Stretching Therapy

Regular stretching is of enormous benefit for children with Duchenne muscular dystrophy. Performing a daily stretching routine is the most effective way to prevent loss of flexibility. When done correctly, it can prevent muscle contractures and deformities and ultimately improve physical ability and prolong independence.

Suspension Therapy

This technique helps to free a body part from the resistance of friction while it is moving the part. It is suspended in a sling attached to a rope that is fix to an appropriate point above the body segment This is applicable in cases in which the patient not able to do the movement actively.

Movement Therapy

Can do passively, actively and actively with assistance This helps to increase blood circulation, maintain joint range of motion and also prevent developing muscle tightness and thereby prevent contracture.

Aerobics Training

Aerobic exercise helps to maintain overall fitness, especially cardiac and respiratory health. If muscles are intact and functioning, then resistance, or strengthening exercise helps to increase muscle mass.

Gait & Co-ordination Training

It helps to

  • strengthen muscles and joints
  • improve balance and posture
  • build endurance
  • develop muscle memory
  • retrain legs for repetitive motion
  • lower risk of falls, while increasing your mobility

Postural Correction Training

The recognition of abnormal postures is important as they ultimately interfere with activities of daily living, function and quality of life. The assessment and management of posture is thus one of the most important aspects of the medical and rehabilitative care of these patients. First aim is to diagnosis of postural defect, then start giving proper stretching and strengthening exercises as early as possible which helps to prevent further postural defects.

Electrotherapy

IFT, Ultrasound, Electrical Stimulation, FIR are some of the equipment used for treatment. It mainly helps in:

  • Relaxation of muscle spasms
  • Improved local blood circulation and flow.
  • Re-education of muscles using targeted stimulation
  • Management and reduction of pain
  • Facilitation of healing of muscle injury

Group Exercise Therapy

Exercising with a Group is motivating. It will even spark some friendly competition. It can be fun also.

Occupational Therapy

  • Play therapy for very small children.
  • Activities involving gross and fine motor hand function such as clay modelling, puzzle solving, craft activities.
  • Balance training In swiss ball such as ball bouncing, prone in the ball, lateral trunk flexion in the swiss ball.
  • Obstacle crossing which will promote balance and proper weight shifting for ambulant kids.
  • Bed mobility with and without assistance to promote trunk activity.
  • Teaching energy conservation and modified day to day activities.
  • Helping in living a quality life.

Play Therapy

Play therapy is a form of therapy primarily geared toward children. In this form of therapy, a therapist encourages a child to explore life events that may have an effect on current circumstances, in a manner and pace of the child’s choosing, primarily through play but also through language.

Yoga Therapy

In the rehabilitation centre in Coimbatore, regular yoga sessions are being taught by a trained Yoga teacher, who is imparting this wonderful knowledge to the benefit of the children and families. Apart from regular physiotherapy, ‘Yoga’ is also imparted with the rehab management. Mainly because, yoga and its benefits are holistic and it addresses the respiratory health in an extra ordinary way. Pranayama, Kapalapathi and Bhastrika are very helpful to maintain good lung function.

We believe yoga will contribute towards good breathing practices and help in improvement of basic gait and respiratory function. We have specially planned exercises and yoga sessions for parents and children to enable them to cope better. Children are evaluated on a regular basis for their consistent effort and their performance is recorded.

Benefits include

  • Improve body flexibility and balance.
  • Improved cardiovascular endurance (stronger heart)
  • Improved digestion.
  • Enhanced overall muscular strength.
  • Relaxation of muscular strains.
  • Weight control.
  • Increased energy level

Virtual Reality

We have started Virtual Reality in rehabilitation. With the growing accessibility of computer-assisted technology, one option for rehabilitation programs for individuals with Duchenne muscular dystrophy (DMD) is the use of virtual reality environments to enhance motor practice. There is a need to support individuals with Duchenne Muscular Dystrophy (DMD) to achieve optimal functionality in everyday life and with meaningful tasks and activities, throughout stages of the disease progression. Thus, technological developments have created an exciting opportunity for the use of affordable virtual reality (VR) systems with different kinds of interaction devices, providing an efficient and fun tool for enabling improvement in motor performance.

Rehabilitation Aids

We provide Orthotics such as Foot drop Splints, Hip Knee Ankle foot Orthotics (HKAFO), Knee Ankle foot Orthosis (KAFO), Ankle Foot Orthosis (AFO), Knee Brace, Callipers, Gutter splint to the children according to their specific needs. These customized Orthotics are being assessed and evaluation done by a Physiatrist & Rehabilitation Medicine Expert for every child once in a month.

Training

Training was offered to the professionals (Community Health Nurses, Teaching professionals, Officials in Differently abled welfare organization, Integrated Child development Scheme), who serve as a liaison between the community and the health fraternity. This in turn creates an integrated network to cater to the children and families afflicted by this condition. We have trained over 15,000 people to identify the children with Duchenne in both rural & urban across the state. By this collaborative effort we could raise awareness on the existing government schemes amidst to the families.

Village Health Nurses Training

Training was provided to the public Health workers through out the state. Nearly 10,000 health workers were trained to identify the children with the symptoms in rural & Urban.
Traning-VHN
Doctors Training

Doctors Training

Refresher courses and subject specific training for doctors provided this equipped Primary Health centers to identify children with Duchenne over 500 clinicians trained till date.

ICDS Training

Integrated Child Development Scheme official (Anganwadi Teachers) were trained for early identification of symptoms as they are well equipped to cater to the children below 5 years.

training-SSA

SSA Training

Special Educators play an important role in government schools to train and educate children with special abilities we did not miss this opportunity to collaborate with them and conduct camps in school premises.

Screening Camp

Screening camps were conducted in each & every district of the state. We had conducted more than 3000 children were screened to identify the kids with symptoms
screeningcamp-1
camp in rehab

Camps in Rehabilitation Centers

Screening camps was conducted regularly for the patients rehabilitation centers like Myopathy Kappagam, Veeravanallur & also at Amar Seva Sangam, Ayakudi in Tirunelveli district for the genetic diagnosis. 

Door Step Screening

Field Visit

Our Community Outreach workers have reached at the door steps of more than 1000 houses to screen the children with symptoms of DMD who otherwise had no means to reach the hospital or camp sites.
Door Step Screening-field visit

IEC Activity

Information , Education, Communication (IEC Activities like Rally, Marathons, Holding plug cards in traffic signals and newspapers to create awareness among the public to bring about an inclusive society and equity.
IEC Activity

Volunteer and Support Group

We have more than 500 volunteers across the state to help us the families in the respective districts. Networking is going on yet to strengthen the volunteer group.
Volunteers Group

Ambulance

Rehabilitation services are offered on a regular basis for the children affected with Duchenne Muscular Dystrophy who are residing in and around Coimbatore and Tirupur. The children are brought to the Rehabilitation centre in MDCRC from their door steps in a customized van with a ramp that is wheel chair accessible.
Ambulance (2)
Ambulance (1)

Prenatal Counseling

Prenatal genetic counsellor works with individuals, couples, or families who are more likely to have a child with a birth defect or genetic condition. This helps in early stage of pregnancy to identify genetic abnormalities. People who are currently pregnant or planning having a child in the future should consult with a prenatal genetic counsellor to learn more about the condition in question, to better understand its complications, and to explore options for prenatal screening, testing and/or assisted reproductive techniques. They will make the family understand the clinical information, what to expect and how to prepare for the birth of the child with special needs and discuss abortion or adoption options as well.

Group Counseling

Group counselling is a form of counselling where a small group of individuals gather to discuss, interact, and explore an issue, helping to gain mutual support and motivation. The key idea behind this is, struggling with specific issues may lead to isolation, and a feeling that you are alone in dealing with your problem. Enhancing emotional expressiveness, group counselling attempts to lessen this social isolation by assembling people with similar issues to enforce that difficulties are not singular to one person. Additionally, knowing other people with similar problems may be soothing for an individual, who may not have access in their own family and friends to people with the same problem.

Individual Counseling

Individual counselling is a one-on-one counselling between the family and a trained Genetic counsellor, in a safe, compassionate, and confidential atmosphere. During the session, the genetic counsellor gains more details from the family by making them comfortable enough to share their feelings. By doing so, the family is able to identify those aspects of their lives that they would like to enhance. Thus, it encourages them to have a clear insight of themselves and others. By gaining the insight they will realize what’s troubling them and what they actually want in life.

Reproductive Counseling

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Tele-Genetics

Due to COVID19, tele-genetics services made genetic counselling feasible via internet, it provides consultations faster through both telephonic and video call. Tele-consultation saves time by helping families in this pandemic get consultations without travelling long distances. Also this technique is a quicker way to assist families with any emergency needs.

Psychosocial Counseling

Psycho-social refers to both the individual’s psychological and social dimensions. This counselling is an activity in which the counsellor provides time, attention, respect that is required to discuss, find and describe ways of living more resourcefully. It enhances the individual’s mental and emotional health.

In Person

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    Tele-genetics

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