Phenotype #0000143974
| Individual ID |
00183244 |
| Associated disease |
MFM |
| Phenotype details |
5y-difficulty running; 20y-slowly progressive muscle weakness; 24y-unable to climb stairs from, slow walk with cane; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) distal laxity, resolved with age; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218), dental malocclusion (HP:0000689), elongated face; 12y-dysphagia (HP:0002015), improved; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); 20y-mild thoracic scoliosis (HP:0002650); no spinal rigidity (-HP:0003306); pectus excavatum (HP:0000767); scapular winging (HP:0003691); pes cavus (HP:0001761); no pet planus (-HP:0001763); 15y-restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); 27y-abnormal septal motion and low normal ejection fraction; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods |
| Diagnosis/Initial |
myofibrillar myopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
MFM-8 |
| Age/Examination |
29y (29 years) |
| Age/Onset |
05y |
| Phenotype/Onset |
difficulty running |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-10-19 06:36:05 +02:00 (CEST) |
| Date last edited |
2019-03-06 14:30:34 +01:00 (CET) |
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