University:
Swansea University
Course:
PM-139 | Human Physiology 1
Academic year:

2023
Views:

298

Pages:

2
Author:

Amal J.

Autosomal dominant 1) Fascio-scapulo humeral → 1-2/ lakh people → cause is unknown → weakness of facial muscle, scapular muscle [winging of scapula & protrusion of scapula] → camel backed gait → Coat symptom is present ↓ sensory neuronal hearing loss with retinal telangiectasia → progressive muscle weakness → involvement of respiratory & cardiac muscles 2) Scapulo-peroneal → it is an autosomal dominant & recessive but more inauto recess → affects scapular & peroneal muscles → only affects adulthood 3) Oculo-pharyngeal → affects after 15 years → ptosis → oculoparesis → dysphagia is present 4) Limb girdle → both in autosomal dominant & recessive → proximal/girdle muscles are affected more 5) Myotonic MD Myotonic - failure to muscle relaxation or take 1) vibrate the muscle & relax take more time after dimple formation 2) ask the pt to hold a thing & releasing is difficult C/F → adult is affected 1) boldness of fronthal 2) hollowness in the temporal fossa & cheek 3) hanging of mouth 4) weakness of neck & shoulder muscles 5) limb weakness starts with the distal part (hand & foot) 6) ptosis