34 Questions
Which of the following best describes muscular dystrophy?
A group of hereditary disorders resulting in progressive muscle weakness and wasting
How can muscular dystrophy be transmitted?
X-linked, autosomal dominant, or autosomal recessive fashion
What is the most frequent cause of muscular dystrophy?
Mutations in the X-linked gene encoding dystrophin
What happens to muscle fibers at the end stage of muscular dystrophy?
They are replaced by fibro-fatty tissue (pseudohypertrophy)
What is the primary outcome of muscular dystrophy on the muscles?
Progressive, generalized weakness and wasting of the muscles
What is the function of the spinal cord?
To carry messages from the brain to the body
Where does lumbar spinal stenosis occur?
In the lower back
What are the symptoms of lumbar spinal stenosis?
Pain, numbness, weakness, and loss of function in legs and feet
What is the difference between incomplete and complete spinal cord injuries?
Incomplete injuries retain some feeling and/or function below injury site, while complete injuries sever or fully compress the cord
What causes damage to the spinal cord?
Injury, compression, or damage to nearby tissues and bones
How are spinal cord disorders treated?
Surgical (repair, remove tumors), nonsurgical (physical therapy, medications)
What are the possible causes of spinal cord injuries?
Trauma, infections, and degenerative conditions
What are the areas into which the spinal cord is divided?
Cervical (neck), thoracic (upper back), lumbar (lower back), and sacral (pelvis)
What do spinal nerves connect to through vertebral spaces?
Specific body areas with motor and sensory roots
What can spinal cord disorders cause in terms of body functions?
Temporary or permanent changes in feeling, movement, strength, and body functions
Which condition is characterized by a fluid-filled cavity or cyst called a syrinx in the spinal cord?
Syringomyelia
What is the most common cause of subacute combined degeneration (SCD)?
Vitamin B12 deficiency
Which type of syringomyelia is often associated with a Chiari malformation and hydrocephalus?
Congenital syringomyelia
What is a neurological disorder characterized by degeneration of the spinal cord, particularly affecting the posterior and lateral columns?
Subacute combined degeneration
What can cause acquired syringomyelia besides a spinal cord tumor?
Idiopathic reasons
What are symptoms of syringomyelia?
Reduced skin sensations and muscle atrophy
Which diagnostic test is commonly used for diagnosing subacute combined degeneration (SCD)?
MRI
What is the acquired type of syringomyelia commonly associated with besides spinal cord tumor?
Tethered cord
What are the common symptoms of subacute combined degeneration (SCD)?
Sensory disturbances and muscle weakness
Which complication may occur post-operatively after surgery for syringomyelia or SCD?
Infection and incomplete removal of a herniated disc or bone spur
What is the most common and severe form of muscular dystrophy?
Duchenne muscular dystrophy
Which condition is characterized by chronic compression of a nerve?
Nerve entrapment
What are common symptoms of nerve entrapment?
Altered sensation and weakness
Which type of muscular dystrophy affects around 1 in 30,000 individuals?
Becker muscular dystrophy
What is the protein whose absence or deficiency causes muscular dystrophies?
Dystrophin
What is a common clinical feature of muscular dystrophies?
"Waddling gait"
What is necessary to determine the underlying cause of nerve entrapment?
Thorough assessment
What type of symptoms can manifest in muscular dystrophies?
"Cognitive impairments"
What are the possible causes of nerve entrapment?
Traumatic injuries, tumors or cysts, pregnancy hormones, and conditions such as rheumatoid arthritis
Study Notes
- Muscular dystrophies are genetically inherited disorders affecting muscle strength and function, caused by the absence or deficiency of the protein Dystrophin.
- There are several types of muscular dystrophies, including Duchenne, Becker, and various forms of Limb-Girdle muscular dystrophies.
- Duchenne is the most common and severe form of muscular dystrophy, affecting approximately 1 in 3,500 live male births, while Becker is less severe and affects around 1 in 30,000 individuals.
- Muscular dystrophies can manifest with various symptoms and progression rates, depending on the type. Some types exhibit symptoms in early childhood, while others may be diagnosed later in life.
- Clinical features of muscular dystrophies may include muscle weakness, cognitive impairments, learning difficulties, scoliosis, waddling gait, and cardiomyopathy.
- Diagnosis of muscular dystrophies typically involves a combination of medical history, physical examination, laboratory tests, and genetic testing.
- There is currently no cure for muscular dystrophies, but various treatments can help manage the symptoms and improve quality of life. These include medications, surgical interventions, physical therapy, and assistive devices.
- Nerve entrapment is a condition characterized by chronic compression of a nerve, leading to pain and/or loss of function. Entrapment neuropathies can affect various peripheral nerves, including those in the arms and legs.
- Common symptoms of nerve entrapment include pain, tingling, numbness, weakness, and altered sensation. The specific symptoms depend on the affected nerve.
- Causes of nerve entrapment include traumatic injuries, tumors or cysts, pregnancy hormones, and conditions such as rheumatoid arthritis. A thorough assessment is necessary to determine the underlying cause.
Test your knowledge on the evaluation and diagnosis of musculoskeletal conditions including history taking, physical examination, and diagnostic tests such as imaging and electro-diagnosis.
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