Myopathy, myofibrillar, 9, with early respiratory failure
- Synonyms
- EDSTROM MYOPATHY; Hereditary myopathy with early respiratory failure; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Myopathy, distal, with early respiratory failure, autosomal dominant
- 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:
- Gerald Pfeffer
- Patrick F Chinnery
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (81 available)
Clinical features
Help- Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- 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 weakness
Shoulder girdle muscle weakness
- MedGen UID: 96533
- Concept ID: C0427063
- Finding: Finding
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 musculoskeletal system
- Achilles tendon contracture
Achilles tendon contracture
- MedGen UID: 98052
- Concept ID: C0410264
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- Diaphragmatic weakness
Diaphragmatic weakness
- MedGen UID: 101067
- Concept ID: C0521532
- Finding: Finding
Abnormality of the musculoskeletal system
- Difficulty walking
Difficulty walking
- MedGen UID: 86319
- Concept ID: C0311394
- Finding: Finding
Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber splitting
Muscle fiber splitting
- MedGen UID: 322813
- Concept ID: C1836057
- Finding: Finding
Abnormality of the musculoskeletal system
- Myofibrillar myopathy
Myofibrillar myopathy
- MedGen UID: 395532
- Concept ID: C2678065
- Finding: Finding
Abnormality of the musculoskeletal system
- Neck flexor weakness
Neck flexor weakness
- MedGen UID: 334801
- Concept ID: C1843637
- 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
- Quadriceps muscle weakness
Quadriceps muscle weakness
- MedGen UID: 154367
- Concept ID: C0577655
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Rimmed vacuoles
Rimmed vacuoles
- MedGen UID: 340089
- Concept ID: C1853932
- Finding: Finding
Abnormality of the musculoskeletal system
- Achilles tendon contracture
- Abnormality of the respiratory system
- Nocturnal hypoventilation
Nocturnal hypoventilation
- MedGen UID: 375246
- Concept ID: C1843643
- Finding: Pathologic Function
Abnormality of the respiratory system
- Reduced vital capacity
Reduced vital capacity
- MedGen UID: 141657
- Concept ID: C0476408
- Finding: Finding
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Nocturnal hypoventilation
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