Myosin storage myopathy
- Synonyms
- Congenital myopathy 7A, myosin storage, autosomal dominant; MYH7-Related Myosin Storage Myopathy; MYH7-related late-onset scapuloperoneal muscular dystrophy; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; SCAPULOPERONEAL MUSCULAR DYSTROPHY; SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE; Scapuloperoneal myopathy, MYH7-related
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (77 available)
Genes See tests for all associated and related genes
Also known as: CMD1S, CMH1, CMYO7A, CMYO7B, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM, MYH7
Summary: myosin heavy chain 7
Clinical features
Help- Abnormality of limbs
- Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy
- MedGen UID: 374276
- Concept ID: C1839666
- Finding: Finding
Abnormality of limbs
- Pelvic girdle muscle weakness
Pelvic girdle muscle weakness
- MedGen UID: 96534
- Concept ID: C0427064
- Finding: Finding
Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
- MedGen UID: 339837
- Concept ID: C1847766
- Finding: Finding
Abnormality of limbs
- Shoulder girdle muscle weakness
Shoulder girdle muscle weakness
- MedGen UID: 96533
- Concept ID: C0427063
- Finding: Finding
Abnormality of limbs
- Calf muscle pseudohypertrophy
- 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
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
- Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- Difficulty climbing stairs
Difficulty climbing stairs
- MedGen UID: 68676
- Concept ID: C0239067
- Finding: Finding
Abnormality of the musculoskeletal system
- Difficulty running
Difficulty running
- MedGen UID: 108251
- Concept ID: C0560346
- 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
- Generalized limb muscle atrophy
Generalized limb muscle atrophy
- MedGen UID: 333018
- Concept ID: C1838114
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized muscle weakness
Generalized muscle weakness
- MedGen UID: 155433
- Concept ID: C0746674
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Neck flexor weakness
Neck flexor weakness
- MedGen UID: 334801
- Concept ID: C1843637
- Finding: Finding
Abnormality of the musculoskeletal system
- Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy
- MedGen UID: 331235
- Concept ID: C1842162
- Finding: Finding
Abnormality of the musculoskeletal system
- Scapuloperoneal weakness
Scapuloperoneal weakness
- MedGen UID: 331234
- Concept ID: C1842161
- 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
- Centrally nucleated skeletal muscle fibers
- Abnormality of the nervous system
- Falls
Falls
- MedGen UID: 39084
- Concept ID: C0085639
- Finding: Finding
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Falls
- Abnormality of the respiratory system
- Reduced vital capacity
Reduced vital capacity
- MedGen UID: 141657
- Concept ID: C0476408
- Finding: Finding
Abnormality of the respiratory system
- Reduced vital capacity
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