Please enable JavaScript.
Coggle requires JavaScript to display documents.
Congenital myopathy with fibre-type disproportion (What is it (Signs…
Congenital myopathy with fibre-type disproportion
What is it
Muscle weakness at key joint areas
Two types of muscle fibre slow twitch and fast twitch Slow twitch significantly smaller than fast twitch so exhaustion occurs quickly
Muscle wasting disease
Signs
Hypertonia
decreased muscle tissue
Hard to diagnose as symptoms are linked to many other conditions such as spinal muscular atrophy and brain malformations
Non progressive disease so can be improved
Some cases are severe can lead to respiratory muscle weakness and cardiomyopathy
Muscle biopsy can be used to detect fibre type disproportionation
Occurs due to mutation in TPM3 RYR1 ACTA1 genes
Genes that possess mutation are responsible for proteins used in muscular contractions so proteins that have been synthesised will then have completely different function due to change in primary sequence of amino acids
Tropomyosin 3 gene which controls production of protein which controls binding of Actin and myosin (sliding filament theory)
Actin alpha 1 controls protein produced which is found in the sarcomeres (muscular contractions)
Effects on the body
Joint deformities
Lordosis
excessive curvature of lumbar
Scoliosis
lateral spine movement
effects posture
Muscle weakness in key joint areas hips and shoulders
Delayed motor developments
Contractures
Shortening and permanent hardening of tendons and muscles leading to joint rigidity
Proximal muscles affected the most
muscles closest to the bodies mid line
Implications on movement and Exercise
Biomechanically levers will function but effort will be extremely weak
As joints are weak exercise will be challenging as muscular strength and endurance is poor
Smaller amount of slow twitch fibres so limited endurance capability of muscle tissue
Delayed motor development so inability to perform either gross or fine motor skills walking crawling, grasping an object
Poor balance due to weakness in shoulders and hips
Poor posture due to joint deformities
Treatment/recovery
Physical therapy and orthopaedic therapy can be used
Weight bearing exercise and resistance exercise to stimulate muscle size and strength