X-linked scapuloperoneal muscular dystrophy
- Synonyms
- SCAPULOPERONEAL MYOPATHY, FHL1-RELATED; Scapuloperoneal myopathy, X-linked dominant
- Modes of inheritance
- X-linked dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- Finding: Finding
Abnormality of limbs
- Knee flexion contracture
Knee flexion contracture
- MedGen UID: 98042
- Concept ID: C0409355
- Finding: Finding
Abnormality of limbs
- Lower limb muscle weakness
Lower limb muscle weakness
- MedGen UID: 324478
- Concept ID: C1836296
- Finding: Finding
Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Scapuloperoneal myopathy
Scapuloperoneal myopathy
- MedGen UID: 419759
- Concept ID: C2931268
- Finding: Disease or Syndrome
Abnormality of limbs
- Foot dorsiflexor 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 cardiovascular system
- Right bundle branch block
Right bundle branch block
- MedGen UID: 88445
- Concept ID: C0085615
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Right bundle branch block
- Abnormality of the musculoskeletal system
- Achilles tendon contracture
Achilles tendon contracture
- MedGen UID: 98052
- Concept ID: C0410264
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Forearm supination contracture
Forearm supination contracture
- MedGen UID: 1813105
- Concept ID: C0409340
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
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
- Achilles tendon contracture
- Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Steppage gait
Steppage gait
- MedGen UID: 98105
- Concept ID: C0427149
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
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