Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
22q13.33
Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 603041.1.1 | Tunisia | Female | Yes | Yes | Cachexia; Peripheral neuropathy; Myopath... Cachexia; Peripheral neuropathy; Myopathy; Short stature; Tachycardia; Delayed puberty; Abnormal facial shape; Leukoencephalopathy; Increased circulating lactate concentration  | NM_001953.5:c.1190T>A | Homozygous | Autosomal, Recessive | Ammar et al. 2022 | Patient "P1" in the ... |
| 603041.1.2 | Tunisia | Male | Yes | Yes | Cachexia; Short stature; Abnormal facial... Cachexia; Short stature; Abnormal facial shape; Increased circulating lactate concentration; Cardiomyopathy; Diabetes mellitus; Muscle weakness | NM_001953.5:c.1190T>A | Homozygous | Autosomal, Recessive | Ammar et al. 2022 | Brother of 603041.1.... |