Myofibrillar myopathy 4
- Synonyms
- Myofibrillar myopathy, ZASP-related; Zaspopathy; Zaspopathy (type)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
- MedGen UID: 371881
- Concept ID: C1834696
- Finding: Finding
Abnormality of limbs
- Hyporeflexia of lower limbs
- 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 cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the musculoskeletal system
- Autophagic vacuoles
Autophagic vacuoles
- MedGen UID: 107466
- Concept ID: C0544966
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
EMG: myopathic abnormalities
- MedGen UID: 867362
- Concept ID: C4021726
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- EMG: neuropathic changes
EMG: neuropathic changes
- MedGen UID: 867363
- Concept ID: C4021727
- 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
- Progressive distal muscle weakness
Progressive distal muscle weakness
- MedGen UID: 324556
- Concept ID: C1836609
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive muscle weakness
Progressive muscle weakness
- MedGen UID: 68704
- Concept ID: C0240421
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive proximal muscle weakness
Progressive proximal muscle weakness
- MedGen UID: 322841
- Concept ID: C1836156
- Finding: Finding
Abnormality of the musculoskeletal system
- Autophagic vacuoles
- Abnormality of the nervous system
- Polyneuropathy
Polyneuropathy
- MedGen UID: 57502
- Concept ID: C0152025
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polyneuropathy
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