Neurology - Muscular Dystrophy Flashcards
What is muscular dystrophy?
Genetic conditions that cause gradual weakening and wasting of muscles
What is the major muscular dystrophy?
Duchenne’s muscular dystrophy
What are the different types of muscular dystrophy?
Duchenne’s
Becker’s
Myotonic
Facioscapulohumeral
Oculopharyngeal
Limb-girdle
Emery-Dreifuss
What is Gower’s sign?
Children with proximal muscle weakness use specific technique to stand up from lying position
To stand they get onto hands and knees
Push hips up and backwards and put hands to their knees
While legs straight, they walk hands up legs to get body upright
What causes Gower’s sign?
Muscles around pelvis not strong enough to get body upright without help of their arms
How does Gower’s sign present?
Young child with vague symptoms of muscle weakness
Hands on their legs to help them stand up
Usually caused by Duchenne muscular dystrophy
How is muscular dystrophy managed?
Aim to have the highest quality of life
- Occupational therapy
- Physiotherapy
- Medical appliances (wheelcahirs and braces)
- Surgical and medical management of complications e.g. spinal scoliosis and HF
What causes Duchenne’s?
Defective gene on X chromosome
X linked recessive
Dystrophin holds muscles together at a cellular level
Boys much more likely to be affected as only one X chromosome
How does Duchenne’s present?
Boys around 3 - 5 years
Weakness in pelvic muscles
Weakness is progressive and eventually all muscles affected
Wheelchair bound by teenage hood
25-35 years prognosis with good management of cardiac and respiratory complications
What can be used to help manage Duchenne’s?
Oral streroids
Slows progression of muscle weakness by up to 2 years
Creatine supplementation
Slightly improves muscle strength
What is Becker’s MD?
Very similar to Duchenne’s
Dystrophon gene less severely affected and still has some of its function
Symptoms appear at 8-12
Patients can need wheelchairs by late 20s-30s
Management same as Duchenne’s
What is myotonic dystrophy?
Presents in adulthood
- Progressive muscle weakness
- Prolonged muscle contractions
- Cataracts
- Cardiac arrhythmias
How can myotonic dystrophy present?
Patient unable to let go after shaking someone’s hand
Unable to release grip on doorknob after opening door
What is facioscapulohumeral MD?
Presents in childhood with weakness around face
Progresses to shoulders and arms
How does facioscapulohumeral MD present?
Sleeping with eyes slightly open
Weakness in pursing lips
Unable to blow cheeks out without air leaking from mouth
