|
MDC | |
|
Muscular symptoms | |
(i) Progressive external ophthalmoplegia | |
(ii) Ptosis, facies myopathica | |
(iii) Exercise intolerance | |
(iv) Reduced muscle power or muscular hypotonia <6 months | |
(v) Acute rhabdomyolysis | |
(vi) Abnormal EMG* | |
CNS symptoms | |
(i) Delayed or absent psychomotor development or mental retardation | |
(ii) Loss of acquired skills | |
(iii) Stroke like episodes | |
(iv) Seizures | |
(v) Migraine | |
(vi) Myoclonus or myoclonic epilepsy | |
(vii) Cortical blindness | |
(viii) Pyramidal tract involvement (increased muscle tone, opisthotonus, increased DTR, and upward Babinski) | |
(ix) Extrapyramidal involvement (athetosis, dystonia, and involuntary movement) | |
(x) Brainstem involvement | |
(xi) Cerebellar involvement (ataxia, intention tremor, and dysdiadochokinesis) | |
Multisystem symptoms | |
(i) Sideroblastic anemia | |
(ii) Pancytopenia | |
(iii) Hepatic dysfunction | |
(iv) FTT | |
(v) Pancreatic dysfunction | |
(vi) Intestinal pseudo-obstruction | |
(vii) >3 weeks chronic diarrhea | |
(viii) Short stature (<−2 SD or <3rd%) | |
(ix) Delayed puberty | |
(x) DM I or II | |
(xi) Hypoparathyroidism | |
(xii) Central DI | |
(xiii) Hypertrophic or dilated cardiomyopathy | |
(xiv) Conduction block | |
(xv) Proximal tubular dysfunction | |
(xvi) FSGS | |
(xvii) Cataracts | |
(xviii) Retinopathy | |
(xix) Optic atrophy | |
(xx) Sensorineural hearing loss | |
(xxi) Exacerbation of any of the above symptoms with minor illness | |
(xxii) Sudden unexplained infant death in family history | |
Metabolic labs* | |
(i) Elevated lactate >2000 umol/L on 3 occasions | |
(ii) Elevated L/P ratio >18 | |
(iii) Alanine >450 umol/L | |
(iv) CSF lactate >1800 umol/L | |
(v) CSF protein | |
(vi) CSF alanine | |
(vii) Elevated urine amino acids or lactate | |
(viii) Urine ethylmalonic acid or 3-methylglutaconic acid or dicarbonic acids | |
(ix) Abnormal muscle bx, | |
(x) Abnormal brain MRI | |
|
EPF | |
|
Major criteria | |
(i) Nonfebrile seizures | |
(ii) Febrile seizures (>2 episodes or 1 episode in child <6 months) | |
(iii) Peripheral neuropathy | |
(iv) Acquired microcephaly | |
(v) Cranial nerve paresis | |
(vi) Impaired cognitive development ( >1 y) | |
(vii) Cerebellar dysfunction and ataxia | |
(viii) Motor disabilities, paraparesis, spasticity | |
(ix) Abnormalities on MRI or CT scan* | |
(x) Pancreatitis | |
(xi) Cardiomyopathy | |
(xii) Myopathy | |
(xiii) Decrease in visual acuity, retinopathy | |
(xiv) Abnormal ocular motor function | |
(xv) Nystagmus | |
(xvi) Deafness | |
(xvii) Unexplained death | |
Minor criteria | |
(i) Febrile seizures | |
(ii) Isolated changes in muscle tone (hypo or hyper) | |
(iii) Behavioral disturbances and hyperactivity disorder | |
(iv) Moderate cognitive delay | |
(v) Increase in transaminase levels | |
(vi) Persistent anemia, neutropenia, or thrombopenia | |
(vii) Tubular defect (renal) | |
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