Clinical Signs and Symptoms
ORPHA:2020 Congenital fiber-type disproportion myopathy
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.
- Generalized muscle weakness HP:0003324
- Muscular hypotonia HP:0001252
- Myopathy HP:0003198
- Reduced tendon reflexes HP:0001315
Very frequent
- Ankle contracture HP:0006466
- Decreased fetal movement HP:0001558
- EMG: myopathic abnormalities HP:0003458
- Failure to thrive HP:0001508
- Fatigable weakness of bulbar muscles HP:0030192
- Feeding difficulties HP:0011968
- High palate HP:0000218
- Hip contracture HP:0003273
- Joint laxity HP:0001388
- Long face HP:0000276
- Mildly elevated creatine phosphokinase HP:0008180
- Motor delay HP:0001270
- Pectus excavatum HP:0000767
- Poor suck HP:0002033
- Recurrent respiratory infections HP:0002205
- Reduced vital capacity HP:0002792
- Respiratory insufficiency due to muscle weakness HP:0002747
- Tented upper lip vermilion HP:0010804
- Type 1 muscle fiber atrophy HP:0011807
- Waddling gait HP:0002515
- Weak cry HP:0001612
Frequent
- Calf muscle hypertrophy HP:0008981
- Congenital hip dislocation HP:0001374
- Elbow flexion contracture HP:0002987
- Flexion contracture of finger HP:0012785
- Hyperlordosis HP:0003307
- Knee flexion contracture HP:0006380
- Kyphoscoliosis HP:0002751
- Micrognathia HP:0000347
- Ophthalmoplegia HP:0000602
- Polyhydramnios HP:0001561
- Ptosis HP:0000508
- Pulmonary hypoplasia HP:0002089
- Scapular winging HP:0003691
- Short stature HP:0004322
- Talipes equinovarus HP:0001762
Occasional
- Cryptorchidism HP:0000028
- Dilated cardiomyopathy HP:0001644
- Intellectual disability HP:0001249
Rare
Additional information
Further information
Specialised Social Services
Warning
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.