Clinical Signs and Symptoms
ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Myopathy HP:0003198
- Chronic fatigue HP:0012432
- Developmental regression HP:0002376
- Difficulty standing HP:0003698
- Difficulty walking HP:0002355
- Distal muscle weakness HP:0002460
- Exercise intolerance HP:0003546
- Failure to thrive in infancy HP:0001531
- Feeding difficulties in infancy HP:0008872
- Generalized muscle weakness HP:0003324
- Generalized-onset seizure HP:0002197
- Hyporeflexia HP:0001265
- Infantile encephalopathy HP:0007105
- Motor delay HP:0001270
- Muscular hypotonia HP:0001252
- Progressive proximal muscle weakness HP:0009073
- Recurrent pneumonia HP:0006532
- Respiratory distress HP:0002098
- Respiratory failure HP:0002878
- Respiratory insufficiency due to muscle weakness HP:0002747
- Skeletal muscle atrophy HP:0003202
- Bilateral ptosis HP:0001488
- Bulbar palsy HP:0001283
- Dysarthria HP:0001260
- Dysphagia HP:0002015
- Infantile sensorineural hearing impairment HP:0008610
- Myalgia HP:0003326
- Ophthalmoparesis HP:0000597
- Progressive external ophthalmoplegia HP:0000590
- Severe sensorineural hearing impairment HP:0008625
- Ventilator dependence with inability to wean HP:0005946
- Weakness of facial musculature HP:0030319
- Cognitive impairment HP:0100543
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.