14.4 – Muscular Diseases, Disorders and Diagnostic Testing
Common Diseases and Disorders
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is caused by the inability of the body to make dystrophin (a muscle protein). This causes the muscles to become weak as the person ages. This disease primarily affects boys, and signs and symptoms typically present before the age of five. Signs and symptoms may include frequent falls and trouble keeping up with peers. Since all muscles are affected, the person will eventually require a wheelchair and assistance with breathing (Muscular Dystrophy Canada, 2020). To learn more, please visit Muscular Dystrophy Canada’s neuromuscular disorders web page [New Tab].
Cerebral Palsy
Cerebral Palsy (CP) is caused by an interruption to the normal development of a person’s brain, leading to weakness in muscles. Depending on the area of the brain that is affected, signs and symptoms will vary in the type and severity between individuals. Balance and coordination are often challenging due to the inability to control muscles (Centers for Disease Control and Prevention, 2024; Ontario Federation for Cerebral Palsy, 2018). To learn more about Cerebral Palsy, please visit the Centers for Disease Control and Prevention [New Tab].
Carpal Tunnel Syndrome
Carpal tunnel syndrome may present with pain, numbness or weakness in the hand(s) caused by pressure on the median nerve. Some causes for this pressure are work-related, such as keyboarding with improper body mechanics, illnesses such as arthritis, and even pregnancy (Cleveland Clinic, 2024). To learn more, visit Cleveland Clinic’s Carpal Tunnel web page [New Tab].
Paralysis
Paralysis is the loss of strength and control of the muscles in parts of the body. Paralysis can be localized, where it affects specific areas such as the face, feet, vocal cords, etc., or it can be generalized, where it affects a larger area of the body. There are various types of generalized paralysis, including:
- Paresis: a partial paralysis wherein there is still some control of the muscles
- Paraplegia: paralysis that affects both legs and lower part of the body
- Quadriplegia: affects both arms, both legs and sometimes from the neck down
- Hemiplegia: affects one side of the body. For example, the arm and leg on the same side of the body (Cleveland Clinic, 2021)
To learn more about paralysis, please visit the Cleveland Clinic’s Paralysis information web page [New Tab].
Sprain and Strain
A sprain is an injury to a joint whereby a ligament is stretched or torn.
A strain is an injury to a muscle whereby a tendon is stretched or torn.
Diagnostic Procedures
Electromyography (EMG) is a procedure that assesses the function of nerve cells that control muscles. Electrodes, either attached to the skin or inserted into the muscle, allow for the recording of electrical impulses. EMG can indicate functional problems with the peripheral nerves, muscles, or with the signals between the nerves and the muscles. This is just one test in a series of tests that assist in the diagnosis of neuromuscular disorders (Mayo Clinic Staff, 2019). To learn more, please visit the Mayo Clinic’s Electromyography web page [New Tab].
Magnetic Resonance Imaging (MRI) is a test that uses radio frequency waves and a magnetic field to produce clear images that aid in the diagnosis of a wide range of conditions (London Health Sciences Centre, 2020). Leung (2017) notes that there has been increased clinical use of MRI for the treatment and monitoring of muscular disorders due to the high-quality MRI images that distinguish skeletal muscles from fat (para. 4).
Range of Motion Testing is a diagnostic procedure used to determine the amount of movement around a specific joint.
Medical Terminology in Context
Musculoskeletal System – Referral Letter (Text version)
Use the words below to fill in the referral letter:
- CTS
- tingling
- numbness
- osteoarthritis
- clumsiness
- metacarpal
- atrophy
- arthrodesis
- flexion
- tenorrhaphy
- median
- ligament
PATIENT NAME: Mrs. Anna JONES
AGE: 65
SEX: Female
DOB: June 29
REASON FOR REFERRAL: Evaluation and consideration for surgery for treating carpal tunnel syndrome.
Dear Dr. Porter
I am referring Mrs. Jones for evaluation and consideration for surgery for treating _______[Blank 1]. Mrs. Jones is 65 years old. She has moved to this area 2 years ago and I have been her primary care physician since then. Recently she has been complaining of _________[Blank 2], tingling, burning, and pain in her right hand, primarily in the thumb, index, and middle fingers. Occasionally the pain and _________[Blank 3] travel up the forearm toward her shoulder. The patient reports that the pain and unusual sensations have started gradually and worsened over the past couple of years.
The patient has worked as a data entry clerk at a pharmaceutical company for 35 years. Her work involved sitting at her desk and typing on a computer for an average of 7 hours on each workday. She is retired now. The patient reports that during the past few months she has also felt weakness and _________[Blank 4] in her hand, and this has made her everyday life difficult. She can tell that her grip is not as strong as before since she frequently drops things. Now she is finding the simple tasks such as buttoning her clothes, cutting vegetables, and brushing her teeth challenging. The x-ray of the right hand and wrist shows clear signs of ________[Blank 5] and osteoporosis of carpal and _______[Blank 6] bones. On visual examination there is no muscle . The wrist has limited _________[Blank 7] and extension range of motion.
It is important to note that the patient had been in a car accident in her teenage years and had suffered from a compact fracture of her left wrist bones. Multiple surgeries, including arthroplasty and __________[Blank 8], were done to restore the functionality of the left wrist and hand. Eventually, her orthopedic surgeon performed a subtotal ___________[Blank 9] of the wrist to provide a stable and pain-free joint with a limited useful range of motion.
Based on the aforementioned observations and findings I have determined that Mrs. Jones is a fit candidate for CTS surgery. A proper cut in the transverse carpal __________[Blank 10] would release the pressure off the ________[Blank 11] nerve and relieve the symptoms.
Thank you for seeing Mrs. Jones. Please do not hesitate to contact me directly with any questions or comments you may have concerning her care. Also, please keep me updated on her progress and kindly refer her back to my care once her condition resolves.
__________________________________
Trevor Sharpe, MD, Family Medicine
Note: Report samples (H5P and Pressbooks) are to encourage learners to identify correct medical terminology and do not represent the Association for Health Documentation Integrity (AHDI) formatting standards.
Check your answers:
Activity source: Musculoskeletal System – Referral Letter by Saeedeh Akram and Heather Scudder, from Building a Medical Terminology Foundation by Kimberlee Carter and Marie Rutherford, licensed under CC BY- 4.0. /Text version added.
Medical Specialties Related to Muscular System
Orthopedic Surgeon
Orthopedic Surgeons are medical doctors who complete an additional 5-years of specialized training in the prevention, diagnosis, treatment and surgery of disorders and diseases related to the musculoskeletal systems (Canadian Medical Association, 2019). For more details, please visit the Canadian Medical Association’s page on Orthopedic Surgery [PDF].
Neurologist
Neurologists are medical doctors who complete an additional 5 years of specialized training in the prevention, diagnosis, and treatment of disorders and conditions related to the brain, spinal cord, nerves and muscles (Canadian Medical Association, 2019). For more details, visit the Canadian Medical Association’s page on Neurology profile [PDF].
Kinesiologist
Kinesiologists are regulated health-care professionals with a four-year degree in kinesiology or related discipline. In Ontario, a kinesiologist must be registered and in good standing with the College of Kinesiologists of Ontario. Kinesiologists work in a variety of settings that assist people with pain management, injury prevention, and health promotion through biomechanics (College of Kinesiologists of Ontario, n.d.). To learn more, visit the College of Kinesiologists of Ontario’s website [New Tab].
Attribution
Except where otherwise noted, this chapter is adapted from “Muscular System” in Building a Medical Terminology Foundation by Kimberlee Carter and Marie Rutherford, licensed under CC BY 4.0. / A derivative of Betts et al., which can be accessed for free from Anatomy and Physiology (OpenStax). Adaptations: dividing Muscular System chapter content into sub-chapters.