Clinical Signs and Symptoms
ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
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.
- Abnormal peripheral action potential amplitude HP:0030179
- Areflexia HP:0001284
- Cough HP:0012735
- Fatiguable weakness of proximal limb muscles HP:0030200
- Intermittent painful muscle spasms HP:0011964
- Lower limb muscle weakness HP:0007340
- Sensory impairment HP:0003474
- Upper limb muscle weakness HP:0003484
Very frequent
- Abnormal cranial nerve physiology HP:0031910
- Abnormality of the urinary system HP:0000079
- Bulbar signs HP:0002483
- Difficulty standing HP:0003698
- Distal sensory impairment HP:0002936
- EMG: positive sharp waves HP:0030007
- Elevated circulating creatine kinase concentration HP:0003236
- Inability to walk HP:0002540
- Limb fasciculations HP:0007289
- Muscle fibrillation HP:0010546
- Tremor HP:0001337
Frequent
- Abnormal glucose homeostasis HP:0011014
- Abnormality of the seventh cranial nerve HP:0010827
- Aspiration pneumonia HP:0011951
- Dysphagia HP:0002015
- Dyspnea HP:0002094
- Lower cranial nerve dysfunction HP:0410262
- Nasogastric tube feeding in infancy HP:0011470
- Respiratory failure HP:0002878
- Respiratory failure requiring assisted ventilation HP:0004887
Occasional
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.