Quiz Flashcards
DO mitochondrial myopathies have acquired symptoms
YES! Ptosis, EOMS, are acquired
What gaze may be unaffected in mitochondrial myopathies
Downgaze
Kearns Sayer key symptoms
Night blindness, short stature. Dementia, DM. Heart. Pigment retinopathy.
Kearns Sayer tx
low carbs, high lipid, B1 and B7 (biotins) COQ10,
What to avoid in Kearns sayer
valproate and phenobarbital. Seizure meds.
MELAS
have lactic acidosis, have encephalopathy with developmental delay seizures and dementia. Opthamologples, optic atrophy. Pig retinopathy.
MNGIE
GI problems and leukoencephaly
SANDO syndrome
Sensory, Ataxic neuropahty, dysarthria, opthamoplegia. Furrowed tongue.
Leigh Syndrome
Subacute necrotizing enechalomyelopathy. Atonia. Occurs in children. Strabismus, pig retinopathy, optic atrophy, ptosis, nystagmus, skew.
TX for eight syndrome
Decreased carbs, increased lipids, B1, COQ10. Sodium citrate for lacticacidosis
Mito myopathies with pig retinopathies
Kay’s sayer (night blindness), Minas, Leight.
Myotonic Dystrophy
Look aged, Christmas tree cataract. Mitotic pupils. Retinal dystrophy with sclera showing.
TX for myotonic dystrophy
phenotonin for myotonia. Cataract, ptosis, prism for diplopia
Oculopharyngeal dystrophy
Hispanic. Dysphagia, Astrologist posture. Ptosis is bilateral and complete and EO is mild if present.
DX of oculopharyngeal dystrophy
High creatine phosophkinase. Vacuoles in muscle.