Distal myopathy with posterior leg and anterior hand involvement
- Synonyms
- Myopathy, distal, 4; WILLIAMS DISTAL MYOPATHY
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (51 available)
Clinical features
Help- Abnormality of limbs
- Abnormal calf musculature morphology
Abnormal calf musculature morphology
- MedGen UID: 867409
- Concept ID: C4021779
- Finding: Anatomical Abnormality
Abnormality of limbs
- Thenar muscle weakness
Thenar muscle weakness
- MedGen UID: 330427
- Concept ID: C1832276
- Finding: Finding
Abnormality of limbs
- Abnormal calf musculature morphology
- Abnormality of metabolism/homeostasis
- Mildly elevated creatine kinase
Mildly elevated creatine kinase
- MedGen UID: 342469
- Concept ID: C1850309
- Finding: Finding
Abnormality of metabolism/homeostasis
- Mildly elevated creatine kinase
- 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
- Distal lower limb amyotrophy
Distal lower limb amyotrophy
- MedGen UID: 324515
- Concept ID: C1836451
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal upper limb amyotrophy
Distal upper limb amyotrophy
- MedGen UID: 867223
- Concept ID: C4021581
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal lower limb amyotrophy
- Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
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