Infantile-onset X-linked spinal muscular atrophy
- Synonyms
- AMC, distal, X-linked; ARTHROGRYPOSIS, X-LINKED, TYPE I; Arthrogryposis multiplex congenita, distal, X-linked; SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE; Spinal Muscular Atrophy, X-Linked Infantile; Spinal muscular atrophy, X-linked 2
- Modes of inheritance
- X-linked recessive 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:
- Lisa Baumbach-Reardon
- JM Hunter
- Mary Ellen Ahearn
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Myopathic facies
Myopathic facies
- MedGen UID: 90695
- Concept ID: C0332615
- Finding: Finding
Abnormality of head or neck
- Tongue fasciculations
Tongue fasciculations
- MedGen UID: 65987
- Concept ID: C0239548
- Finding: Finding
Abnormality of head or neck
- Myopathic facies
- Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis
- MedGen UID: 867398
- Concept ID: C4021768
- Finding: Finding
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
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Decreased fetal movement
Decreased fetal movement
- MedGen UID: 68618
- Concept ID: C0235659
- Finding: Finding
Abnormality of prenatal development or birth
- Decreased fetal movement
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
- MedGen UID: 1830310
- Concept ID: C5779613
- Finding: Disease or Syndrome
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
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Multiple joint contractures
Multiple joint contractures
- MedGen UID: 57633
- Concept ID: C0158118
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Severe muscular hypotonia
Severe muscular hypotonia
- MedGen UID: 326544
- Concept ID: C1839630
- Finding: Finding
Abnormality of the musculoskeletal system
- Spinal muscular atrophy
Spinal muscular atrophy
- MedGen UID: 7755
- Concept ID: C0026847
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Decreased compound muscle action potential amplitude
Decreased compound muscle action potential amplitude
- MedGen UID: 908357
- Concept ID: C4230625
- Finding: Finding
Abnormality of the nervous system
- Degeneration of anterior horn cells
Degeneration of anterior horn cells
- MedGen UID: 375215
- Concept ID: C1843505
- Finding: Finding
Abnormality of the nervous system
- Persistent head lag
Persistent head lag
- MedGen UID: 256151
- Concept ID: C1141883
- Finding: Finding
Abnormality of the nervous system
- Areflexia
- 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
- Respiratory insufficiency
- Abnormality of the voice
- Weak cry
Weak cry
- MedGen UID: 65892
- Concept ID: C0234860
- Finding: Finding
Abnormality of the voice
- Weak cry
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.