chronic neuromuscular disorders in. ch Flashcards
NMD
disease of muscles
peripheral nerves
NMJ
sensory dysfunction
causes of NMD
(neuropathies) diabetes, autoimmune /miller fisher variants
chemotherapy alcohol
nmj disorders- myasthenia g
Lambert eaton syndrome
muscular disorders
Muscular disorders, hereditary:
Congenital myopathies – muscle weakness existing at birth
Muscular dystrophies
Metabolic/ mitochondrial myopathies – breakdown of muscles, cramping syndromes, exercise intolerance
Muscular disorders, acquired:
Inflammatory - inclusion body myositis, Dermatomyositis, Polymyositis
Infective - Necrotizing myopathy
examples of NMD
Inherited neuropathies (Charcot-Marie-Tooth)
Chronic inflammatory demyelinating polyneuropathy (CIDP) and Guillain-Barré syndrome (GBS)
Muscular dystrophies
Myasthenia gravis (MG)
Guillian barre
Autoimmune
Demyelinating
Typically distal to central
Rarely ocular but can be - Miller Fisher syndrome typically has ophthalmoplegia
chronic inflammatory deymyleinating polyneruoptahy
autoimmune
Demyelinating
Slower course than GBS but very similar in it’s signs/ symptoms
Lambert eaton
affects presynaptic ACH production (autoimmune)
symptoms
ptosis
Decreased lacrimation
Diplopia
Dysphagia
Vestibular symptoms
Hyposalivation
MG symptoms
Myasthenia Gravis - chronic autoimmune disorder Congenital myasthenia
Changes in expression/ facial movement
Ptosis
Diplopia
Improves with
rest
examples of muscular dystrophies
caused by dystrophin protein production/mitcondrial
Typically large muscle groups first
But also the heart, lungs, gastrointestinal system, endocrine glands, spine, eyes, swallow
Duchenne Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
Myotonic dystrophy
Emery-Dreifuss Muscular Dystrophy
myotonic dystrophies
An inability to relax muscles at will
weak muscles including face
opthalmoplegia +/-ptosis
Pupil sparing
Cataracts
Slow progression
primary sympton of muscle weakness
primary symptom is muscle weakness - commonly progressive weakness of the arms and legs
causes
inflammation in the muscles themselves (polymyositis, dermatomyositis and inclusion body myositis)
Often toxic
oculocraniatic syndrome
oculocraniosomatic syndrome (Kearns-Sayre syndrome)
Orbital myositis - pain, ocular movement impairment, diplopia, proptosis, swollen eyelids, and conjunctival hyperemia
peripheral neuropathies
combination of neurologic symptoms including weakness, numbness and pain in the arms, hands, legs and feet
most common inherited diseases of the nervous system
chariot Marie tooth syndrome
> 70 different causal genes have been identified
Many have sensory component - often missed
Ocular component
chemotherapy can
induce neuropahthies
typically peripheral but can be cranial
developmental considerations in infants
90% of brain growth/ myelinisation complete by 2 years
primitive reflexes in newborn
during infancy cerebral cortex development inhibits primitive reflexes (disappear at predictable times)
motor and sensory maturation occurs in cephalo-caudal and proximo-distal order (resulting from the myelinisation)
development in orderly sequence
