Polyglucosan body myopathy type 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormality of limbs
- Hand muscle weakness
Hand muscle weakness
- MedGen UID: 66798
- Concept ID: C0239831
- Finding: Finding
Abnormality of limbs
- Limb-girdle muscle weakness
Limb-girdle muscle weakness
- MedGen UID: 347625
- Concept ID: C1858127
- Finding: Finding
Abnormality of limbs
- Pelvic girdle amyotrophy
Pelvic girdle amyotrophy
- MedGen UID: 867170
- Concept ID: C4021528
- Finding: Disease or Syndrome
Abnormality of limbs
- Pelvic girdle muscle weakness
Pelvic girdle muscle weakness
- MedGen UID: 96534
- Concept ID: C0427064
- Finding: Finding
Abnormality of limbs
- Peroneal muscle weakness
Peroneal muscle weakness
- MedGen UID: 488803
- Concept ID: C0240733
- Finding: Finding
Abnormality of limbs
- Shoulder girdle muscle weakness
Shoulder girdle muscle weakness
- MedGen UID: 96533
- Concept ID: C0427063
- Finding: Finding
Abnormality of limbs
- Hand muscle weakness
- 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
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber inclusion bodies
Muscle fiber inclusion bodies
- MedGen UID: 867769
- Concept ID: C4022159
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber polyglucosan inclusion bodies
Muscle fiber polyglucosan inclusion bodies
- MedGen UID: 1841936
- Concept ID: C5826649
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal muscle weakness
- Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Muscle fibrillation
Muscle fibrillation
- MedGen UID: 65418
- Concept ID: C0231531
- Finding: Finding
Abnormality of the nervous system
- Gait disturbance
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