Myofibrillar myopathy 5
- Synonyms
- FILAMINOPATHY, AUTOSOMAL DOMINANT; Filaminopathy; Filaminopathy (type); Myofibrillar myopathy, filamin C-related
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (60 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the musculoskeletal system
- Difficulty climbing stairs
Difficulty climbing stairs
- MedGen UID: 68676
- Concept ID: C0239067
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber cytoplasmatic inclusion bodies
Muscle fiber cytoplasmatic inclusion bodies
- MedGen UID: 867767
- Concept ID: C4022157
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber splitting
Muscle fiber splitting
- MedGen UID: 322813
- Concept ID: C1836057
- Finding: Finding
Abnormality of the musculoskeletal system
- Myofibrillar myopathy
Myofibrillar myopathy
- MedGen UID: 395532
- Concept ID: C2678065
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Difficulty climbing stairs
- Abnormality of the nervous system
- Abnormal peripheral nervous system morphology
Abnormal peripheral nervous system morphology
- MedGen UID: 892389
- Concept ID: C4025831
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Abnormal peripheral nervous system morphology
- Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory insufficiency
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