Clinical Signs and Symptoms
ORPHA:370980 Congenital muscular dystrophy without intellectual disability
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.
- Congenital muscular dystrophy HP:0003741
- Abnormality of the cerebral white matter HP:0002500
- Achilles tendon contracture HP:0001771
- Cerebellar atrophy HP:0001272
- Difficulty walking HP:0002355
- EMG: myopathic abnormalities HP:0003458
- Facial diplegia HP:0001349
- Fatty replacement of skeletal muscle HP:0012548
- Frequent falls HP:0002359
- Generalized hypotonia HP:0001290
- Generalized muscle weakness HP:0003324
- Limb-girdle muscle atrophy HP:0003797
- Mildly elevated creatine phosphokinase HP:0008180
- Motor delay HP:0001270
- Muscle cramps HP:0003394
- Myalgia HP:0003326
- Neonatal hypotonia HP:0001319
- Proximal amyotrophy HP:0007126
- Reduced muscle fiber alpha dystroglycan HP:0030099
- Toe walking HP:0040083
- Intellectual disability HP:0001249
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.