Phenotype #0000143977
| Individual ID |
00183247 |
| Associated disease |
MFM |
| Phenotype details |
onset 2y, ambulant 22y, difficulty running
and climbing, frequent falls, slowly progressive weakness from 20y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783);no cardiac disease; elevated CK (HP:0040081) 3x |
| Diagnosis/Initial |
myofibrillar myopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
MFM-8 |
| Age/Examination |
22y (22 years) |
| Age/Onset |
02y |
| Phenotype/Onset |
- |
| 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 07:09:34 +02:00 (CEST) |
| Date last edited |
2019-03-08 09:23:33 +01:00 (CET) |
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