Diagnosis of Neuromuscular Diseases

Accurate diagnosis is the first and a crucial step in the management of proper care for your child. In this context, our neuromuscular team will base on a thorough evaluation of 1) clinical assessment, 2) physical examination findings and 3) laboratory test data, as outlined below, to diagnosis your child’s condition.

1. Clinical Assessment

   Our neuromuscular specialist will first obtain relevant family medical history of your child. The doctor will also 1) ascertain history regarding your child’s various developmental milestones in relation to motor skill, speech and language development, cognitive development and etc 2) enquire presence of common associated symptoms. For any symptoms present, the doctor will obtain detailed knowledge such as onset age, historical and recent course of the symptoms.

2. General Physical Examination

   Afterwards a physical examination will be performed. This includes looking for signs of deformed bones or muscles, stiff joints, elbow, achilles or neck contractures or muscle bulk, tone and strength. As well as that, doctor may

   • listen to heart sounds with a stethoscope to identify underlying potential heart problems;
   • look for signs of breathing/ respiratory problems;
   • look for signs of scoliosis (curved spine) or back stiffness;
   • look for stiffness of joints in other areas of the body;
   • identify signs of brain or eye involvement or seizures;
3. Further Physical Examination and Laboratory Testing

   Based on the aforementioned evaluations and physical examination findings, our neuromuscular team may recommend further physical examination and diagnostic testing:

   • Blood tests :-

     Enzyme testing - Blood samples are taken to test enzymes, such as creatine kinase (CK), released by damaged muscles. High blood levels of CK in the absence of other types of muscle damage may suggest a muscular disease — such as muscular dystrophy.

     Genetic testing - Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy. If your child is tested and confirmed for certain neuromuscular disorder, either or both parents may be arranged for genetic testing (e.g. for Duchenne muscular dystrophy, mother of the concerned child is the potential carrier).

     Electromyography (EMG) and Nerve conduction study (NCS) - It is a diagnostic procedure to assess the health of the muscles, the nerve cells (motor neuron), the pathway of the nerves and the junction between the nerves and the muscles. While the nerve cells (motor neurons) transmit electrical signals that cause the muscles to contract, the EMG and NCS translate these signals into graphs, sounds and numerical values that a specialist can interpret. EMG and NCS result can reveal nerve or muscle dysfunction or problems with nerve-to-muscle signal transmission.  To learn more about these procedures and how they will be undertaken, please click here.
   • Biopsies (muscle and nerve) - A small piece of muscle (usually from either arm or leg) can be removed through an incision or with a hollow needle and then examination by a pathologist. Analysis (biopsy) of the tissue sample can distinguish muscular dystrophies from other muscle diseases. To learn more about this test and how it will be undertaken, please click here.
   • Musculoskeletal assessment (X-rays, Dexa scan) - A bone mineral density (BMD) test is the best way to determine bone health. The test can identify osteoporosis, determine risk for fractures (broken bones), and measure response to osteoporosis treatment. The most widely recognized BMD test is called a dual-energy x- ray absorptiometry, or DXA test. It is painless—a bit like having an x-ray. The test can measure bone density at one’s hip and spine. To learn more about Dexa’s assessment procedure and interpretation of assessment results, please click here.
   • Muscle imaging (including MRI scan) - When muscle is wasted away, it is replaced by fatty tissue. Thus patients with neuromuscular diseases typically have a higher fat content. Muscle imaging scans can be used to evaluate muscle bulk and tissue, fat and bone and identify which muscle is affected.  This information can be used to guide initial diagnosis (e.g. the muscle to be chosen for biopsy) as well as to monitor disease progression.
   • Motor function assessment (by Physiotherapy team)
   • Cardiac testing (electrocardiogram, echocardiogram by Cardiac team)
   • Pulmonary testing (pulmonary function test, nocturnal SpO2 monitoring, sleep study by Respiratory team)
   • Feeding assessment (oromotor and swallowing assessment by Feeding team)
   • Seating and rehabilitation equipment needs (by Occupational therapy team)