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Serum Creatine Phospho Kinase CPKMassive elevation of the serum CPK Paper

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Paper type: Essay , Subject: Medical Assistant

Serum Creatine Phospho Kinase (CPK)

Massive elevation of the serum CPK (at least 10–20x normal) is present in most cases. The finding of a high CPK level should prompt urgent specialist referral for confirmation of the diagnosis. The clinician should be made aware of the association of non-hepatic elevation of SGOT and SGPT in DMD. Unexpected elevation of transaminases should alert the physician to the possibility of DMD and so should check the CPK.

Genetic testing

This is the best first step available for the confirmation of the diagnosis of DMD and should be performed. Multiple ligation probation assay (MLPA) & Next generation sequencing (NGS) testing for the full 79 exons of the DMD gene is available at several laboratories in India at a very nominal cost and this can be performed on a small sample of blood drawn from the child. A deletion of the dystrophin gene will be found in around 70% of cases. This will then confirm the diagnosis and no further testing may be necessary. At present in India we do not have many laboratories capable of looking for duplication or a point mutation on a routine basis. If the deletions are negative it would be important to go for the next step of muscle biopsy (Muscular Dystrophy Association India, 2009)

Muscle biopsy

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This is usually performed on a sample of muscle taken from the child under anesthesia. Most hospitals still use the quadriceps/ biceps muscle for sampling. Should be performed by an expert and hospital who are capable of handling any undue emergencies during anesthesia in these children. Although needle biopsy can be considered for getting the muscle tissue sine the yield of muscle tissue is so small and many times inadequate unless performed by an expert an open biopsy method is preferable. The biopsy specimen should be handed over quickly to a pathology laboratory which is capable of performing routine histopathology, enzyme histochemistry and immuno-histochemistry as these steps are important to quantify the amount of dystrophin present in the muscle tissue sample provided and help a definitive diagnosis.

Carrier Analysis

Carrier analysis of the mother by molecular genetic testing is an important next step along with genetic counselling. Unfortunately this is again not freely available and sometimes rather expensive. However it is an important step as it helps to counsel the family about the chance of recurrence during the next pregnancy in the family. Even if the condition has arisen as a result of a new mutation, there is an average 10% risk of recurrence due to germline mosaicism. Genetic counselling should also be offered to sisters and aunts (mother’s side) in reproductive age if the mother carries the mutation (Muscular Dystrophy Association India, 2009).

Electrophysiological studies

With elevated CPK and molecular diagnostic tests the child will undergo electrophysiological studies like electromyogram (EMG) and nerve conduction tests to know about the muscle and nerve conditions.


Of the child periodically for improvement in the clinical symptoms like time for getting up from the floor, ability to climb stairs, not falling as frequently as before, muscle strength testing, Forced Vital Capacity evaluation by lung function testing and parent and child perception of the value of the treatment are all important.


1.2.5 Adapting to changes

i) Early Developmental Stages

The child will enjoy acquiring gross motor skills (movements which use the large muscles of the body) such as crawling, rolling, walking, cycling on adapted tricks and may be running and jumping. All these activities provide good opportunities for learning and development but some will need to be adapted as the child loses strength and tires more easily over time.

During this stage of the child’s development is important to encourage activity that does not cause extreme or sever fatigue. Parents or carer’s may want to consider introducing a physiotherapy and exercise programme that includes:

? Regular stretches – self and / or manual stretches as well as passive

? Swimming, hydrotherapy

? Wearing orthoses (splints) at night to slow down contractures in the ankles.

ii) Later Developmental Stage

There will be a progressive loss of function. Although the child will be walking for periods of time, he or she will also require a wheelchair for mobility, especially over long distances. The upper limbs will also be weaker but daily function activities should be encouraged.

A physiotherapy programme at this stage may include:

? Regular passive stretches

? Stretches to the upper limb muscles

? Swimming

? Wearing orthoses (splints) at night

? Prone lying and other good positioning

iii) Wheelchair Stage

Both good posture and manual stretching programme are important. Physiotherapy support may need to be adjusted following any surgery for scoliosis. In particular, the wheelchair may need adapting to accommodate the child’s improved posture. Physiotherapy programme at this stage may include:

? Regular stretches to minimise the development of contractures in hips, knees and ankles and ensure comfort in bed, ease in dressing and positioning in wheelchair.

? Stretches for the upper limbs to minimise contractures

? Prone lying and other good positioning

? Swimming

? Use of orthoses.


Duchenne Muscular Dystrophy does not solely affect the physicality of children but there are associated psychosocial issues that arise due to these physical disabilities, most specifically as being explored in this study, emotional distress, psychosocial adjustment and health related quality of life and these psychosocial issues may in turn deter true progress for the children affected with Duchenne Muscular Dystrophy.

1.3.1 Emotional Distress

Depression is the “single most prevalent disorder in psychiatry” (Kessler, 2003). Depression has also been identified as the “fourth most common cause of disability and early death worldwide” (Murray & Lopez, 1996). Even more prevalent than depression, are sub-diagnostic states of anxiety and depression (distress). Anxiety and depression can occur concurrently. The symptoms are associated with “reduced quality of life, increased health service utilization, subsequent disorders (e.g. anxiety, mood and sleep disorders) and increased mortality” (Atkinson, Zibin, & Chuang, 1997; Harris & Barraclough, 1998; Cuijpers & Smit, 2004). Anxiety and mood disorders and the sub-threshold symptoms of anxiety and depression carry substantial co-morbidity rates, specifically in this case, with children affected by Duchenne Muscular Dystrophy.

Psychological distress is largely defined as “a state of emotional suffering characterized by symptoms of depression (e.g., lost interest; sadness; hopelessness) and anxiety (e.g., restlessness; feeling tense)” (Mirowsky and Ross 2002). These symptoms may be tied in with “somatic symptoms (e.g., insomnia; headaches; lack of energy) that are likely to vary across cultures” (Kleinman 1991; Kirmayer 1989)

Other risk factors associated with depression/emotional distress, is that it is, associated with psychosocial factors, including job loss, money problems, and social isolation (Kaplan, Roberts, Camacho, & Coyne, 1987), unfavorable socioeconomic circumstances (Lorant et al., 2007), poor physical health, and poor social support (Beard, Tracy, Vlahov, & Galea, 2008). Low self-esteem is another well-known risk factor associated with depression, especially for children and men (Kendler, 1996).

1.3.2 Psychosocial Adjustment

Psychosocial adjustment can be described as the way one adjusts to difficult and stressful events, with this study, associated with Duchenne Muscular Dystrophy. Psychosocial adjustment is “related to six domains of functioning, namely: relationships with friends, dependence, hostility, productivity, anxiety/ depression and withdrawal” (Hendriksen et al., 2011). Psychosocial adjustment is a “general term referring to emotional, behavioral, and social functioning, and is believed to be a central aspect of quality of life”. Although psychosocial adjustment can be sensitive to stressors that are not disease specific, it provides a good estimate of how a child is coping with Duchenne Muscular Dystrophy (Hendriksen et al., 2008). “Adjustment” is a concept that acquires meaning only when defined in terms of social context ‘within which an individual functions. Gilmer (1970) regarded adjustment as “”Psychological Survival” in much uses the term adaptation to survive all”. “To adjust or to be means many different things in different people in different” (Gilmer, 1970). Mental health has two aspects Individual and Social. “The individual aspect of mental health means that the individual is internally adjusted. He is self-confident, adequate and free from internal conflicts, tensions or inconsistencies in his behaviour. He is able to adapt successfully to the changing needs and demands of the environment. He is capable of making decisions, assuming responsibilities in accordance with his capacities. He finds satisfaction, success and happiness in day-to-day work. He is able to live effectively with others. He has insight into and understanding of his motives, desires, weaknesses and strong points” (Dash, 1989). The social aspect of mental health connotes that “mental health is the result of social forces influencing the individual beginning with his formative years and continuing throughout his life. The individual must be capable of social adjustment, otherwise he will have to suffer from mental ill health. He must also be accepted as a member of the society in which he lives. It is because of these two aspects of mental health that mental health is, at times defined as the ability of the individual to make personal and social adjustments” (Dash, 1989). Rogers (1951) asserts “Psychological maladjustment exists when the organism denies to awareness significant sensory and visceral experiences, which consequently are not symbolized and organized into the gestalt of the self-structure. When this situation exists, there is a basic or potential psychological tension” Studies examining psychosocial, behavioral, and emotional functioning in boys with DMD have been relatively sparse. Results have been equivocal, but there is evidence that some boys with Duchenne Muscular Dystrophy are at increased risk for experiencing depression (Poysky, 2007).

1.3.3 Health related Quality of Life

Quality of life can be defined as an “individual’s perception of their position in life, in the context of culture and value system in which they live and about their goals, expectations standard” (Schipper, Clinch, & Olweny, 1996). According to the World Health Organization (1968), it is defined “as the state of complete physical, mental and social wellbeing and not merely the absence of disease or infirmity”. Quality of life can have both an objective and a subjective perspective. The objective assessment looks at how the individual is coping, and it is important in defining the degree of health. The subjective assessment of the quality of life includes the meaning to the individual. It helps to relate the objective measurement of health status to the individual experience of quality of life (Eiser & Morse, 2001). Objective factors include income, health, marital status, gender, and age. Intuitively we may think that having more of these things means greater quality of life (Hagerty et al., 2001). However, in the area of happiness research, objective factors are less powerful than one might expect. Lyubomirsky et al., (2005) propose that objective factors account for about 8–15% of the differences in happiness. Muscular Dystrophy may have a negative impact on a person’s social, occupational, interpersonal functioning and overall quality of life.

Health related Quality of Life (HRQOL) narrows the scope of quality of life (QOL) and “focuses specifically on the impact of illness and treatments on a person’s life” (De Civita et al., 2005). Several definitions of HRQOL have been proposed. Wenger and Furberg (1990) defined “Those attributes valued by patients, including: their resultant comfort or sense of well-being; the extent to which they are able to maintain reasonable physical, emotional, and intellectual function; and the degree to which they retain their ability to participate in valued activities within the family, in the workplace, and in the community.” A consensus conference in the early 1990s agreed upon the fundamental dimensions essential to HRQOL assessment. “As primary dimensions they suggested physical functioning, social functioning, psychological functioning, overall life satisfaction/well-being and perception of health status, with additional dimensions including intimacy, sexual functioning, sleep disturbance, pain and symptoms” (Naughton & Shumaker, 2003). As survival rates and life expectancy for many childhood illnesses increase, improvement in quality of life for these children with Duchenne Muscular Dystrophy becomes increasingly important. Previously published data on the association between Duchenne Muscular Dystrophy progression and HRQOL are limited by small sample sizes and based on many different ratings scales, which make comparisons between studies challenging. Health Related QoL is often used as outcome measures to evaluate patient’s wellbeing. On the individual level, “HRQOL includes physical and mental health perceptions (e.g., energy level, mood) and their correlates, including health risks and conditions, functional status, social support, and socioeconomic status” (Revicki, Kleinman & Cella, 2014). In case of children Health related Quality of Life is influenced also by factors such as “the ability to participate in peer groups and the ability to keep up with developmental activities” (National Research Council, 2004).


The life threatening disease is not the sole responsibility of the parent or the care taker. Along with the Parents, it draws the attention of various professionals as a ‘Team Approach’. The team denotes the Medical team and Rehabilitative team. The daily living activities of muscular Dystrophy children are being supported through the team approach. The Neurologist, Pulmonologist, Cardiologist and Orthopedic surgeon are the professionals carry out their major role in medical team and Physiotherapist, Psychologist, Occupational therapist and Orthotist are the professional play a central role in rehabilitative team. Investigation is the first level of any disease which leads to diagnose the affected children as per the standard medical protocol. Diagnose in turn helps to classify different muscle disease. Through Medical & Rehabilitative Management, the affected child would be suggested to take the provision of orthotics and wheelchairs. As a peculiar disease, proper awareness is needed for the parents and caretakers in handling the children with Muscular Dystrophy. It not only create amicable environment it also engage the stakeholders to cater the educational needs of the children and to plan further follow ups.

The holistic goals of the team management are to achieve early identification of disability and early intervention. Necessary and timely advice for the family is being provided by the medical and rehabilitative care under one roof. Also help the wheelchair bound children to access schools, place of employment, residence and public area through the team approach.

1.4.1 Goals of treatment

Currently there is no cure of DMD and care efforts are aimed at delaying the progression of the disease and improving quality of life (Hinton, 2003).

• Slow Disease Progression

• Control Secondary Complications

• Improve Quality of Life of the Patients and Cares (Muscular Dystrophy Association India, 2009)

Medical Management

The following professionals play a major role in the medical management

i) Paediatrician

The primary medical assistant initiates by the Paediatrician. The role of the Paediatrician is to attend and examine the child. Once the presence of some muscular disease is confirmed or there may be a room for suspicion, then the child will be referred to Paediatric Neurologist.

ii) Paediatric Neurologist

The specialist to investigate the neuromuscular problem of the affected child. Followed by assessment, further investigation will be focused on specific blood test, Molecular diagnostic test, electrophysiological studies and finally if necessary muscle biopsy.

iii) Clinical Genetist

The clinical genetist is a specialist to precise diagnosis with much advanced molecular diagnostic tests like MLPA and NGS.

iv) Orthopaedic surgeon

To intervene the child if the child has tight muscles which hinder the mobility and stability? The common procedures are Tendo Achilles release, Spine corrective surgeries.


v) Cardiologist

This disease primarily damages all types of muscles includes cardiac muscles and when there is impaired pumping and when the electrical conductivity is not normal cardiologist plays a major role in the management.

vi) Pulmonologist

When the respiratory muscles start declining in the function pulmonologist plays a major role in treating recurrent chest infections, interpreting the lung function tests, advising on sleep study and prescribing appropriate noninvasive ventilations like CPAP & BIPAP at home.

1.4.2 Rehabilitative Management

About the author

This academic paper is composed by Samuel. He studies Biological Sciences at Ohio State University. All the content of this work reflects his personal knowledge about Serum Creatine Phospho Kinase CPKMassive elevation of the serum CPK and can be used only as a source for writing a similar paper.

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