Podcast
Questions and Answers
Which type of muscular dystrophy is most common and typically affects males in early childhood?
Which type of muscular dystrophy is most common and typically affects males in early childhood?
What is a common clinical feature of all types of muscular dystrophy?
What is a common clinical feature of all types of muscular dystrophy?
What is the age range for the onset of Myotonic muscular dystrophy?
What is the age range for the onset of Myotonic muscular dystrophy?
Which treatment is commonly used to slow down muscle degeneration in individuals with muscular dystrophy?
Which treatment is commonly used to slow down muscle degeneration in individuals with muscular dystrophy?
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Which muscular dystrophy type typically leads to death being cardio related and progresses slowly?
Which muscular dystrophy type typically leads to death being cardio related and progresses slowly?
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What is a key feature of Gowers maneuver observed in children with muscular dystrophy?
What is a key feature of Gowers maneuver observed in children with muscular dystrophy?
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What is recommended for parents of children with Duchenne muscular dystrophy?
What is recommended for parents of children with Duchenne muscular dystrophy?
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What does palliative care aim to provide for patients with progressive conditions like muscular dystrophy?
What does palliative care aim to provide for patients with progressive conditions like muscular dystrophy?
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Study Notes
Muscular Dystrophy
- A group of chronic disorders causing progressive weakness and wasting of skeletal muscles.
- Inherited, genetic counseling recommended.
- Muscle fiber degeneration and permanent loss.
Types of Muscular Dystrophy
- Duchenne: (2-6 years), muscle weakness affecting pelvis, upper arms/legs, usually not survival past 20s, males, sex-linked.
- Becker: (adolescents, early adulthood), similar symptoms to Duchenne, males, sex-linked.
- Congenital: (at birth), slow progression, weakness.
- Distal: (40-60 years), slow progression, weakness in arms, hands, and legs, rarely leads to total incapacity.
- Emery-Dreifuss: (childhood-early teens), slow progression, weakness in shoulders, arms, and shin muscles, death is often cardio related.
- Facioscapulohumeral: (childhood-early adulthood), slow but rapid decrease of facial muscle weakness, wasting of shoulders and arms, decades of life expectancy past onset.
- Limb-girdle: (late childhood to middle age), slow progression, weakness and wasting of shoulder and pelvic girdle, death is often cardio related.
- Myotonic: (20-40 years), weakness in muscle groups with delayed relaxation, slow progression (50-60 years).
- Oculopharyngeal: (40-70 years), muscle weakness in eyelids and throat, swallowing difficulty, extremely slow progression.
Clinical Symptoms
- Muscle wasting and weakness.
- Hypotonia (low muscle tone).
- Lack of coordination.
- Progressive crippling, muscle contractures.
- Loss of mobility.
- Spinal deformity.
- Progressive weakness (inheritable).
Gowers Maneuver
- Used to assess leg muscle weakness in children. They raise themselves from their knees to standing.
Symptom Management
- No specific cure.
- Medications:
- Corticosteroids (slow muscle degeneration).
- Anticonvulsants (control seizures).
- Immunosuppressants (slow cell damage).
- Antibiotics (resp infections.)
Important Information about Muscular Dystrophy
- Onset varies by type and gender.
- Spinal deformities are common; orthetic support may be needed.
- Pulmonary function can be compromised.
- Dental and speech problems can impact communication.
- Prognosis varies by type and progression.
- Genetic testing is essential.
- Risk of falls is increased.
Palliative and Hospice Care
- Palliative care: Quality of life management.
- Hospice care: Focuses on end of life.
- MAiD: Medical Assistance in Dying.
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Description
This quiz covers the various types of muscular dystrophy, emphasizing their characteristics, progression, and genetic factors. Learn about Duchenne, Becker, congenital, distal, Emery-Dreifuss, facioscapulohumeral, and limb-girdle muscular dystrophies. Understanding these disorders is crucial for awareness and potential genetic counseling.
