Ullrich congenital muscular dystrophy 1A
- Synonyms
- Late onset scleroatonic familial myopathy (subtype); Ullrich congenital muscular dystrophy 1
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- A Reghan Foley
- Payam Mohassel
- Sandra Donkervoort
- 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
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Increased laxity of ankles
Increased laxity of ankles
- MedGen UID: 376895
- Concept ID: C1850854
- Finding: Finding
Abnormality of limbs
- Talipes equinovarus
Talipes equinovarus
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Increased laxity of ankles
- 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 digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the ear
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Abnormality of the ear
- Protruding ear
- Abnormality of the integument
- Follicular hyperkeratosis
Follicular hyperkeratosis
- MedGen UID: 83101
- Concept ID: C0334013
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Follicular hyperkeratosis
- Abnormality of the musculoskeletal system
- Distal joint hypermobility
Distal joint hypermobility
- MedGen UID: 376894
- Concept ID: C1850851
- 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 amyotrophy
Generalized amyotrophy
- MedGen UID: 234650
- Concept ID: C1389113
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Increased laxity of fingers
Increased laxity of fingers
- MedGen UID: 340649
- Concept ID: C1850855
- 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
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Muscle fiber necrosis
Muscle fiber necrosis
- MedGen UID: 376893
- Concept ID: C1850848
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Muscular dystrophy
Muscular dystrophy
- MedGen UID: 44527
- Concept ID: C0026850
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- 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
- Reduced muscle collagen VI
Reduced muscle collagen VI
- MedGen UID: 866707
- Concept ID: C4021054
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spinal rigidity
Spinal rigidity
- MedGen UID: 346721
- Concept ID: C1858025
- 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
- Wrist hypermobility
Wrist hypermobility
- MedGen UID: 340648
- Concept ID: C1850853
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal joint hypermobility
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Torticollis
Torticollis
- MedGen UID: 11859
- Concept ID: C0040485
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability
- Abnormality of the respiratory system
- Nocturnal hypoventilation
Nocturnal hypoventilation
- MedGen UID: 375246
- Concept ID: C1843643
- Finding: Pathologic Function
Abnormality of the respiratory system
- Recurrent lower respiratory tract infections
Recurrent lower respiratory tract infections
- MedGen UID: 756211
- Concept ID: C3163798
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness
- MedGen UID: 812797
- Concept ID: C3806467
- Finding: Finding
Abnormality of the respiratory system
- Nocturnal hypoventilation
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Slender build
Slender build
- MedGen UID: 376828
- Concept ID: C1850573
- Finding: Finding
Growth abnormality
- Failure to thrive
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