List of Diseases
AD: Alzheimer's Disease
ADPD: Alzheimer's Disease and Parkinsons's Disease
AMDF: Ataxia, Myoclonus and Deafness
CIPO: Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia
CPEO: Chronic Progressive External Ophthalmoplegia
DEAF: Maternally inherited DEAFness or aminoglycoside-induced DEAFness
DEMCHO: Dementia and Chorea
DMDF: Diabetes Mellitus & DeaFness
Exercise Intolerance
ESOC: Epilepsy, Strokes, Optic atrophy, & Cognitive decline
FBSN: Familial Bilateral Striatal Necrosis
FICP:: Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
GER: Gastrointestinal Reflux
KSS Kearns Sayre Syndrome LDYT: Leber's hereditary optic neuropathy and DYsTonia
LHON: Leber Hereditary Optic Neuropathy
LIMM: Lethal Infantile Mitochondrial Myopathy
MDM: Myopathy and Diabetes Mellitus
MELAS:: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
MEPR: Myoclonic Epilepsy and Psychomotor Regression
MERME: MERRF/MELAS overlap disease
MERRF: Myoclonic Epilepsy and Ragged Red Muscle Fibers
MHCM: Maternally Inherited Hypertrophic CardioMyopathy
MICM: Maternally Inherited Cardiomyopathy
MILS: Maternally Inherited Leigh Syndrome
Mitochondrial Encephalocardiomyopathy
Mitochondrial Encephalomyopathy
MM: Mitochondrial Myopathy
MMC: Maternal Myopathy and Cardiomyopathy
Multisystem Mitochondrial Disorder (myopathy, encephalopathy, blindness, hearing loss, peripheral neuropathy)
NARP:: Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease
NIDDM:: Non-Insulin Dependent Diabetes Mellitus
PEM: Progressive Encephalopathy
PME: Progressive Myoclonus Epilepsy
RTT: Rett Syndrome
SIDS: Sudden Infant Death Syndrome
SNHL: Sensorineural Hearing Loss
Varied Familial Presentation: clinical manifestations range from spastic paraparesis to multisystem progressive disorder & fatal cardiomyopathy to truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis, ophthalmoparesis, distal cyclones, & diabetes mellitus.