Neuromuscular disorders:The child that presents with weakness Flashcards
When to suspect a NM disorder?
- Baby ‘floppy’ from birth
- Slips from hands
- Paucity of limb movements
- Alert, but less motor activity
- Delayed motor milestones
- Able to walk but frequent falls
what is Duchenne Muscular Dystrophy?
- Xp21, dystrophin gene, 1/3500 male infants
- Delayed gross motor skills (often walk late)
- Symmetrical proximal weakness- Waddling gait, calf hypertrophy, Gower’s sign positive
- Elevated Creatinine Kinase levels - >1000 in DMD
- Cardiomyopathy
- Respiratory involvement in teens
a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms
what is shown here?
Can see muscle weakness on the face
Myotonia/myotonic – inability to relax after contracting muscle, easily demonstrated in hands
High arch in feet
what is the Anatomical approach to neuromuscular conditions?
Want to detect where is the lesion and what is the lesion
Much history and investigation is directed at having an anatomical approach to detecting where the neuromuscular problem is and what is the lesion
- Muscle: muscular dystrophies (muscle replaced by fat and fibre tissue), myopathies- congenital and inflammatory, myotonic syndromes
- Neuromuscular junction: myasthenic syndromes (congenital or acquired)
- Nerve: Hereditary or acquired neuropathies
- Anterior Horn Cell: Spinal muscular atrophy
Distinguishing between neuropathy and myopathy
Often can be clinically detected
what are the differences?