1/10 Mitochondrial Myopathy
A=Muscles:
Symmetric,proximal, ⬆️ CK + Growth Differentiating Factor-15, EMG-Myopathic finding
Biopsy - Cox negative Fibre, Red + Blue ragged Fibres.
A=Muscles:
Symmetric,proximal, ⬆️ CK + Growth Differentiating Factor-15, EMG-Myopathic finding
Biopsy - Cox negative Fibre, Red + Blue ragged Fibres.
2/10 B=Brain:
Ataxia,Dementia,Strokes,Migraine, Dystonia, Mood issues, seizures, Epilepsia partialis (1)
Ataxia,Dementia,Strokes,Migraine, Dystonia, Mood issues, seizures, Epilepsia partialis (1)
3/10 continue(MELAS+POLG) .
MRI Brain,CSF lactat,EEG.
Leigh-Central gray matter,Putamen, caudate, thalamus, cerebellum, midbrain, pons, Medulla, longtracts.
MELAS- Parital +Occipital lobes.(2)
MRI Brain,CSF lactat,EEG.
Leigh-Central gray matter,Putamen, caudate, thalamus, cerebellum, midbrain, pons, Medulla, longtracts.
MELAS- Parital +Occipital lobes.(2)
4/10 C=Nerves:
Symmetrical distal weakness, hyporeflexia, loss of position & vibration sense, Demyelinating pattern.
Neuropathic Pain, CMT-POLG, OPA1
Autonomic disturbance - GIT, Bladder, Cardiac Conduction, Ortho Hypotension
Symmetrical distal weakness, hyporeflexia, loss of position & vibration sense, Demyelinating pattern.
Neuropathic Pain, CMT-POLG, OPA1
Autonomic disturbance - GIT, Bladder, Cardiac Conduction, Ortho Hypotension
5/10 D=Heart:
KSS-Progressive conduction defects.... Complete heart block
Wolff-Parkinson white--in LHON, MELAS
HYPERTROPHIC CARDIOMYOPATHY
So do Holter,ECG, ECHO.
KSS-Progressive conduction defects.... Complete heart block
Wolff-Parkinson white--in LHON, MELAS
HYPERTROPHIC CARDIOMYOPATHY
So do Holter,ECG, ECHO.
6/10 E=LIVER
Occurs beyond infancy.
⬆️ALT, Fibrosis, Cirrhosis
POLG--Adult onset hepatic disease, fatty liver, fibrosis,.... Non-alcoholic Steato-Hepatitis.
Occurs beyond infancy.
⬆️ALT, Fibrosis, Cirrhosis
POLG--Adult onset hepatic disease, fatty liver, fibrosis,.... Non-alcoholic Steato-Hepatitis.
7/10 F=EYES:
Optic Atrophy, Retinitis Pigmentosa
OA with subacute central vision loss.... Hallmark of LHON.
Optic Atrophy, Retinitis Pigmentosa
OA with subacute central vision loss.... Hallmark of LHON.
8/10 G=EARS
Sensori-Neural hearing loss, high frequency loss,
Aminoglycoside induced Oto-Toxicity, more common in MELAS.
Sensori-Neural hearing loss, high frequency loss,
Aminoglycoside induced Oto-Toxicity, more common in MELAS.
9/10 H=KIDNEY
poor absorbtion of Electrolytes, Amino acids
MELAS-- FSGS, Tubulopathy.
poor absorbtion of Electrolytes, Amino acids
MELAS-- FSGS, Tubulopathy.
10/10 I=ENDOCRINE
DM--MELAS, OTHERS LIKE Adrenal Insufficiency, HypoParathyroid, Hypo/Hyper Thyroid.
DM--MELAS, OTHERS LIKE Adrenal Insufficiency, HypoParathyroid, Hypo/Hyper Thyroid.
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