Autosomal dominant centronuclear myopathy
- Synonyms
- MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT; Myopathy, centronuclear, 1; Myopathy, centronuclear, 3
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Sleepy facial expression
Sleepy facial expression
- MedGen UID: 870757
- Concept ID: C4025214
- Finding: Finding
Abnormality of head or neck
- Sleepy facial expression
- Abnormality of limbs
- Distal lower limb muscle weakness
Distal lower limb muscle weakness
- MedGen UID: 324514
- Concept ID: C1836450
- Finding: Finding
Abnormality of limbs
- Distal lower limb muscle weakness
- 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 eye
- External ophthalmoplegia
External ophthalmoplegia
- MedGen UID: 57662
- Concept ID: C0162292
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- External ophthalmoplegia
- 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
- EMG: myopathic abnormalities
EMG: myopathic abnormalities
- MedGen UID: 867362
- Concept ID: C4021726
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- EMG: myotonic discharges
EMG: myotonic discharges
- MedGen UID: 867779
- Concept ID: C4022169
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: positive sharp waves
EMG: positive sharp waves
- MedGen UID: 607215
- Concept ID: C0429349
- 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
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hyperlordosis
Hyperlordosis
- MedGen UID: 9805
- Concept ID: C0024003
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal amyotrophy
Proximal amyotrophy
- MedGen UID: 342591
- Concept ID: C1850794
- 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
- Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs
- MedGen UID: 356424
- Concept ID: C1866012
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal upper limb amyotrophy
Proximal upper limb amyotrophy
- MedGen UID: 356138
- Concept ID: C1866013
- Finding: Finding
Abnormality of the musculoskeletal system
- Skeletal muscle hypertrophy
Skeletal muscle hypertrophy
- MedGen UID: 853739
- Concept ID: C2265792
- 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
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Easy fatigability
Easy fatigability
- MedGen UID: 373253
- Concept ID: C1837098
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Muscle fibrillation
Muscle fibrillation
- MedGen UID: 65418
- Concept ID: C0231531
- Finding: Finding
Abnormality of the nervous system
- Areflexia
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