NEUROMUSCULAR

Question 1

MYOPATHY EXAMINATION

Answer 1

The main symptom of muscle disease is weakness (onset, duration and progression, pattern of weakness, variability).

weakness in a proximal muscle

Pain, cramps, stiffness (failure of relaxation), fatigue, pigmenturia. IMPORTANT: myopathies never have a sensory dysfunction

Question 2

MYOPATHY INVESTIGATIONS

Answer 2

*creatine kinase enzyme -> increased levels mean a destruction of muscle fibers.

*inflammatory tests (ESR, CRP) and evaluate if there is a general inflammation or not

*EMG to pick up the muscle electrical activity (peripheral conduction should be normal; by outing a needle in the muscle you can find the so called myogenic lesion, which is characterized by full recruitment, a small potential and a large duration  myogenic signs)

*muscle biopsy, usually from deltoid or gastrocnemius muscles.

*Genetic testing is nowadays one of most important tests. They diagnose muscle dystrophies, such as classical the Duchenne, myotonic dystrophy and FSHD.

Question 3

HEREDITARY MUSCLE DISEASES: MUSCULAR DYSTROPHIES

Answer 3

-Muscular dystrophies are degenerative hereditary disorders

-Genetic testing is now the first investigation in myotonic dystrophy and FSHD