|
| 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) | |
|
