How to Diagnose?

1. DIAGNOSIS (infancy/childhood)

Currently, most children with Duchenne remain undiagnosed during the presymptomatic stage (when children show few, if any, symptoms) unless there is a family history of the condition, or unless blood tests are done for other reasons. Symptoms such as delayed walking and crawling or speech are present, but are typically subtle and are often unrecognized at this stage. Parents are often the first to notice differences in their child’s development, the first to ask questions, and the ones requesting further testing to explain perceived developmental delays. The American Academy of Pediatrics has develped a tool to help parents evaluate their child’s development, look for possible delays, and address these concerns with their primary care providers. This tool can be found at: motordelay.aap.org. Psychosocial and emotional support is extremely important when a new diagnosis of Duchenne is confirmed. Receiving a diagnosis of Duchenne is tremendously difficult. There are so many unanswered questions, and families often feel alone and overwhelmed, with few places to turn. Primary care providers and neuromuscular specialists can be especially helpful during this time, facilitating connections to appropriate care and advocacy organizations that can help to provide the resources, information, and support parents need to help themselves and their families. In the US, PPMD has developed a special page with resources parents can use to help during the first 3 months of a new diagnosis (ParentProjectMD.org/for-newly-diagnosed). In addition, both PPMD and MDA have resources available for communicating with children, siblings, and extended family about a Duchenne diagnosis. Connecting with local advocacy groups will help you to know what resources are available.

2. EARLY AMBULATORY (childhood)

In the early ambulatory or walking stage children will be showing what are typically regarded as the “classical” signs of Duchenne. These signs may be very subtle, and may include:

Difficulty lifting the head or neck
Not walking by 15 months
Difficulty walking, running, or climbing stairs
Tripping and falling frequently
Difficulties with jumping and hopping
Not speaking as well as other children the same age
Needing help getting up from the floor or walking the hands up the legs in order to stand
Walking with legs apart
Walking on toes and waddling
Walking with chest pointed out (or having a sway back, saddle back, or arched back)
Elevated creatine kinase (The level of CK is measured in the blood; if a CK is higher than 200, further testing for Duchenne is needed)
Elevated liver enzymes (AST or ALT; an elevated AST or ALT can also be signs that further testing is needed for Duchenne. Further liver evaluations should never be done until testing for Duchenne is complete).

DIAGNOSING DUCHENNE: When there is suspicion of Duchenne, the first test is often a bloodtest to see if serum CK is elevated. People with Duchenne often have a CK level 10 to 100 times the normal value. If this is found, specific tests will be recommended in order to identify the change in the DNA (called the “genetic mutation”) that causes Duchenne. Input from specialists, specifically genetic counselors, may be needed in order to interpret these genetic tests and to discuss how the results may impact your child and possibly other family members. Diagnosis is often made during the early ambulatory phase.

PHYSICAL THERAPY/PHYSIOTHERAPY: an introduction to the physical therapy team at this early stage will allow for exercise/stretching regimes to be introduced gradually to keep muscles flexible and prevent or minimize tightness at the joints. The rehabilitation team can also advise on appropriate exercise during playtime/recess, as well as adaptive physical education, to keep your child safe while supporting school participation. A physical therapy exercise program should focus on stretching and maintaining range of motion rather than strengthening. Night splints (often called “ankle foot orthoses,” or “AFOs”) may be recommended at this stage to provide a prolonged stretch and prevent loss of ankle range of motion. A home stretching program recommended by your physical therapist should become part of your daily routine. Corticosteroids, or “steroids,” should be discussed preferably at diagnosis and may be started at this stage. In planning for the use of steroids, it is important to discuss the benefits of steroids, ensure all immunizations are complete, and discuss any risk factors for the side effects of steroids, as well as how they can be anticipated and minimized. This includes receiving nutrition education (preferably from a registered dietitian) to help avoid side effects such as weight gain and altered bone health.

BONE HEALTH AND HORMONES: Taking steroids can lead to weak bones and may affect the levels of several hormones, such as growth hormone and testosterone (the male sex hormone). Nutrition is important for keeping bones strong, and diets containing Vitamin D and calcium should be encouraged. It may be appropriate to discuss your nutritional needs with a registered dietitian at your neuromuscular visits. Heights and weights should be checked at every neuromuscular visit and should be plotted on a graph to monitor growth and weight over time. Measuring the length of the bone in your forearm (“ulnar length”), or your lower leg (“tibial length”), or adding the lengths of your upper and lower arms together (“segmental arm length”) are alternate ways to record accurate “heights” and should be tracked as well for baseline measurements. A baseline bone-density level should be obtained, using dual energy X-ray absorption (or “DEXA”), when steroids are started.

HEART AND BREATHING MUSCLES: Typically, issues with the heart and breathing muscles are not likely to be present at this stage, but surveillance should start at diagnosis to establish the baseline (what is “normal” for you) and then continue at regular follow-up visits. Starting pulmonary function testing at a young age will help you get used to the equipment and “practice” for subsequent visits. Cardiac monitoring (ECG and cardiac MRI or echocardiogram) is recommended at diagnosis and annually up to age 10, and then more frequently as necessary. It is also important that you have pneumococcal (pneumonia) and yearly influenza vaccinations (flu shots) to avoid illness.

3. LATE AMBULATORY (late childhood/adolescent/young adult):

In the late ambulatory stage walking will become increasingly difficult, with greater struggle during motor activities, such as climbing stairs and getting up from the floor.

PSYCHOSOCIAL, LEARNING, AND BEHAVIOR: Continued evaluation of learning delays or specific learning disabilities is important at this stage. Psychologists and neuropsychologists can help identify the interventions best suited to meet your educational needs. Continued support from professionals will be necessary to help with any learning and behavior issues, and specific interventions may be necessary to address coping strategies for dealing with the loss of physical strength and functions. At this stage, you should start to set goals for the future so that you and your family can work with your school to organize the education and training needed to meet those goals. For some, a neuropsychology evaluation may be indicated to help identify possible cognitive impairments and provide strategies for home and classroom settings to help you function at your best. Caregiving requires emotional and physical energy. Carving out time for oneself, as well as relationships with others, is extremely important. Developing support networks that include extended family and trusted community members can be very helpful in giving caregivers time to rest and recharge.

PHYSICAL THERAPY/PHYSIOTHERAPY: Rehabilitation input will continue to focus on maintaining range of movement, strength, and function in order to maintain independence. If joint tightness cannot be managed by physical therapy, assessment and input from orthopedic specialists may be necessary. A physical therapist has many roles in the care team, including overseeing stretching regimens, recommending equipment such as wheelchairs and standers, and promoting continued weight bearing and standing (this will help with both bone health and digestion). It is important to make sure that mobility aids, such as wheelchairs, are equipped with supportive seating to promote body alignment, proper positioning, and comfort. A daily home stretching program is of continued importance. STEROIDS: Ongoing management of steroid treatment is important at this stage, with attention to the specific regimen and dose used, as well as attention to side-effect prevention, surveillance, and management. Twice-yearly assessments to monitor skeletal muscle strength and function are important. Continued attention to weight control needs to take into account any tendency to be under- or overweight with appropriate intervention if there is a concern.

BONE HEALTH AND HORMONES: Ongoing surveillance of bone health and risk for fractures is important while on steroids, especially as mobility decreases. It is important for your NMS to monitor the risk for fractures through blood tests that check vitamin D levels (“25 OH vitamin D”), as well as imaging tests such as a DEXA scan or spinal X-rays that can assess bone density/health. Diet should be assessed at each visit to ensure that you are eating adequate amounts of vitamin D and calcium. Height, lengths, and weight should continue to be monitored for signs of growth delays.

4.LATE AMBULATORY (late childhood/adolescent/young adult) EARLY NON-AMBULATORY (childhood/adolescent/young adult):

In the early non-ambulatory phase, you may begin getting tired after walking long distances. When this happens, a scooter, larger stroller (if appropriate), or wheelchair may be helpful for assistance with mobility.

PSYCHOSOCIAL, LEARNING, AND BEHAVIOR: Conversations about “transitioning” from an adolescent to an adult should begin at least by age 13 or 14. While your pediatric and adult medical teams, social worker, school professionals, and others will help you plan for a smooth transition, one or two individuals on your neuromuscular team should help guide the development of your personal transition plan. Conversations about your future goals should include education goals, as well as where you would like to live, study, work, and receive medical care. As you become an adult, it is important to maintain independence so you can continue to enjoy activities at home, at school, and with your friends. It is important for you to stay connected to friends – forming and maintaining relationships at this stage is very important. While some people living with Duchenne have no psychosocial issues, some do. Screening for anxiety and depression should happen at each neuromuscular visit. If anxiety or depression is identified, it should be treated early and appropriately.

PHYSICAL THERAPY: In addition to the current home stretching program, attention to tightness in your upper limbs (shoulders, elbows, wrist, and fingers) becomes very important, as does the need for (supported, if needed) standing. Spinal curvature (scoliosis) is seen much less often with the use of steroids, but monitoring for this is still very important following the loss of ambulation. In some cases, scoliosis may progress quite rapidly, often over a period of months. Orthopedic input may also be needed to deal with issues of foot positioning, which can cause pain or discomfort and limit the choice of footwear. Surgical options to assist with ankle and foot joint tightness, if appropriate, may be discussed.

STEROIDS: Maintenance of steroid treatment continues to be an important part of management in this phase whether started previously, continued into this phase, or started at this stage.

BONE HEALTH AND HORMONES: Close surveillance of bone health should continue, with special attention on signs for spinal compression fractures. Ongoing observation of height, lengths, and weight is important to monitor growth. Alternate height measurements from the forearm (“ulnar length”), lower leg (“tibial length”), and the lengths of your upper and lower arms together (“segmental arm length”) will be tracked when standing becomes difficult. Starting around age 9, it is important to monitor puberty. If puberty has not started by age 14, you should be referred to an endocrinologist. If your testosterone level is low, testosterone therapy may be needed.

HEART AND BREATHING MUSCLES: Ongoing assessments of the heart and breathing muscles are necessary. ECG, cardiac MRI or echocardiogram, and other types of tests should be done at least annually from diagnosis and more frequently as needed after age 10. The cardiologist will recommend interventions if there are any changes observed on the ECG, cardiac MRI, or echocardiogram.

HEART AND BREATHING MUSCLES: Monitoring of cardiac function at least anually is still essential and any changes in function, or evidence of fibrosis (scarring) in the cardiac muscle (seen only by cardiac MRI), should be treated promptly. Respiratory function should be monitored every 6 months through pulmonary function testing. If respiratory function begins to decline, interventions to help with breathing and to aid with coughing should be discussed and introduced when appropriate.

PALLIATIVE CARE: The palliative care team includes medical providers who are focused on helping you achieve your highest quality of life, providing relief from pain and discomfort, and helping ensure that your life goals match your treatment choices. While palliative care is sometimes confused with “end-of-life” care, the palliative care team will help you to meet challenges at every stage of your diagnosis and be a supportive resource for you and your family with many types of transitions across your lifespan. All people, with or without Duchenne, need to make decisions around emergency care – what they would like done to their body in an emergency, what they might not want done, who will be their medical power of attorney to make medical decisions if they cannot. The palliative care team is especially helpful in making your emergency care plan and deciding what it should include and where it should be kept.

5. LATE NON-AMBULATORY (Young adult/adult):

In the late non-ambulatory phase, core strength and upper limb strength may weaken, making function and maintenance of good posture increasingly difficult.

PHYSICAL THERAPY: It is important to discuss with your physical therapist what types of stretching, exercises, and equipment can best support your desired level of independence and function. An occupational therapist on your rehabilitation team can help with activities such as eating, drinking, using the bathroom, and transferring to and turning in bed, if needed. Assistive technology evaluations can also be conducted to assess opportunities for extending independence and safety.

STEROIDS: You should continue to discuss steroid regimens, nutrition, puberty, and weight management with your neuromuscular care team. Current recommendations encourage the lifelong continuation of steroids to preserve respiratory and upper limb strength and function.

BONE HEALTH AND HORMONES: Close surveillance of bone health should continue throughout your lifespan. Bone problems may lead to issues with pain and should be addressed with your neuromuscular care team.

HEART AND BREATHING MUSCLES: Monitoring of heart and lung function at least every 6 months is recommended, and often more intensive investigations and interventions may need to be implemented.

PALLIATIVE CARE: The palliative care team continues to be important at this stage. As mentioned above, this team includes medical providers who are focused on helping you achieve your highest quality of life, providing relief from pain and discomfort, your life goals match your treatment choices. While palliative care is sometimes confused with “end-of-life” care, the palliative care team will help you meet challenges at every stage of your diagnosis, and be able to help you and your family with many types of transitions across your lifespan. All people, with or without Duchenne, need to make decisions around emergency care – what they would like done to their body in an emergency, what they might not want done, who will be their medical power of attorney to make medical decisions if they cannot.

LIVING AS AN ADULT WITH DUCHENNE:

A full and productive life as an independent adult living with Duchenne requires planning. Developing a plan to transition from adolescence to adulthood should begin at least by age 13 or 14. Your personal transition plan should be based on the expectations and goals that you have visualized for your future. Your transition plan should include considerations for education, employment, housing, transportation, and mobility within the community, and transferring medical care from pediatric to adult providers (this may not be needed if your medical providers are able to continue to care for adults living with Duchenne). Regardless of whether your medical care/providers change, your resources and benefits will be impacted as you move from childhood to adulthood. Planning for these changes should include you, your family, your school, and your health care teams. Living as an adult with Duchenne is more expensive than living as an adult without Duchenne. You will require resources to support the assistance needed to reach your personal goals. Your neuromuscular team will help you to explore available resources and your eligibility to receive them, and the team will help you to navigate state and federal systems of support. It is also important to continue to find creative ways to stay connected with friends at this stage, especially as your life starts to change. While many people do not experience psychosocial problems, some adults with Duchenne may experience anxiety or depression that benefit from treatment. Screening for anxiety and depression should happen at each neuromuscular visit. If you have issues with anxiety or depression, they should be treated early and appropriately.

OFFICE HOURS

Daily

5:00 – 12:00 pm

01123734572

Expert Egyptian AMD

Vision

Together as Muscular Dystrophy patients, we established the Egyptian Association of Muscular Dystrophy to be a reference and shelter for each & every muscular dystrophy patient striving together to reach new therapies and the care they deserve.

Mission

At EAMD we are committed to help each MD patient to maintain a better Quality of life to reach their full potential, by offering them comprehensive tailored care.

Values

Empathy: we can feel the suffering of muscular dystrophy community in Egypt.
Leadership: we aim to be the reference and source of awareness for patients and their caregivers.
Empowerment: we work hard to provide every MD patient with essential tools to live a powerful life.

Goals

Expanding the association activities by extending arms across the whole country to make it easier for the patient to reach support wherever they are.
To provide suitable employment opportunities that is not less than the minimum wage or appointment in accordance with the educational qualifications.
Allocation of housing units within the provinces for those with special needs and the necessary amenities.
Building a medical building on a global level to receive and treat cases of patients with muscular atrophy and the disabled.
Work on the issuance and amendment of legislation for patients with muscular atrophy and disabled in accordance with the current circumstances.

As per Dr.Rasha El Sherif (Neuromuscular doctor): What is Neuromuscular diseases and how to diagnose?

As per prof. Nagya Fahmi (Neuromuscular pediatric):

Appointment Booking

Our Team are waiting for your requests and we will answer asap.