MYH7-related skeletal myopathy
- Synonyms
- Laing distal myopathy; Laing early-onset distal myopathy; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Phillipa Lamont
- Nigel G Laing
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Amyotrophy of ankle musculature
Amyotrophy of ankle musculature
- MedGen UID: 870171
- Concept ID: C4024604
- Finding: Finding
Abnormality of limbs
- Distal lower limb muscle weakness
Distal lower limb muscle weakness
- MedGen UID: 324514
- Concept ID: C1836450
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Toe extensor amyotrophy
Toe extensor amyotrophy
- MedGen UID: 868722
- Concept ID: C4023127
- Finding: Disease or Syndrome
Abnormality of limbs
- Weakness of long finger extensor muscles
Weakness of long finger extensor muscles
- MedGen UID: 870168
- Concept ID: C4024601
- Finding: Finding
Abnormality of limbs
- Amyotrophy of ankle musculature
- 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
- Mildly elevated creatine kinase
Mildly elevated creatine kinase
- MedGen UID: 342469
- Concept ID: C1850309
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Left atrial enlargement
Left atrial enlargement
- MedGen UID: 536845
- Concept ID: C0238705
- Finding: Finding
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Left atrial enlargement
- Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: neuropathic changes
EMG: neuropathic changes
- MedGen UID: 867363
- Concept ID: C4021727
- Finding: Finding
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Neck muscle weakness
Neck muscle weakness
- MedGen UID: 66808
- Concept ID: C0240479
- 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
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- Rimmed vacuoles
Rimmed vacuoles
- MedGen UID: 340089
- Concept ID: C1853932
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Tibialis anterior muscle atrophy
Tibialis anterior muscle atrophy
- MedGen UID: 868961
- Concept ID: C4023375
- Finding: Finding
Abnormality of the musculoskeletal system
- Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
- MedGen UID: 344274
- Concept ID: C1854387
- 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
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Tip-toe gait
Tip-toe gait
- MedGen UID: 98104
- Concept ID: C0427144
- Finding: Finding
Abnormality of the nervous system
- Gait disturbance
- Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Myalgia
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