Muscular dystrophy Flashcards
Is md a disorder of nn or mm? Explain
Md- disorder of mm itself, no nn issue,
lack of protein called dystrophyn
- lack of protein causes leaking of enzymes necessary for mm contraction
Mm replaced by fat and appears like false bull
How is md passed on?
Through a single recessive gene on x chromosome
Describe the symptoms of the most common type of Md
Duchennes- boys only, x-chromosome Gowers sign- fall over, hard to get up Waddling gait Lordosis Pseudo hypertrophy Scoliosis Lung compression Respiratory failure death early 20s Flexion contracture of knees and elbows Intellectual impairment
Describe becker md
Like duchennes but less severe Pseudo hypertrophy of calves Proximal limbs Teens onset Death middle 30s Similar presentation to duchennes
Describe emery-dreifuss md
Shoukders, upp arm, tib ant, peroneals Drop foot Mm contracture Back and neck stiffness Lack of elbow ext No intelecctual impairment
Which md can affect females too? What is affected?
Limb girdle md Hips, shoulders Respiratory fn decline Scoliosis Heart rate and jntellect not affected
Explain facioscapulohumeral md
Cant close eyes properly or whistle bc facial weakness Smile and speech affected Shoulder droop Scapular winging Full life expectancy Foot drop Peroneals and tib ant
Explain distal md
Clumsy fine motor Tripping cannot heel or toe walk Sweden usually Males and females Normal life span
Explain occulopharangeal md
French canadians Diplopia Droopy eyelids Dysphagia Later onset
Explain congenital md
Group of dystrophyes present at birth Floppy baby syndrome- feeble movement Myotonia- delayed relaxation after voluntary contraction Glandular disorders Hands affected after gripping
What is “anticipation”
A term describing a feature of disease in which each generation exhibits increasingly severe signs and symptoms
Respiratory tx like bronchitis and constipation are a part of focus for md. T/f?
True
Can you use heat on md contractures?
Yes
Define MD
Variety of disorders resulting in a progressive deterioration of skeletal and sometimes cardiac and smooth mm
