Autosomal recessive distal spinal muscular atrophy 1
- Synonyms
- HMN VI; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VI; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1; Neuronopathy, distal hereditary motor, type VI; Neuronopathy, severe infantile axonal, with respiratory failure; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Severe infantile axonal neuropathy with respiratory failure; Spinal muscular atrophy with respiratory distress 1
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (49 available)
Clinical features
Help- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Limb muscle weakness
Limb muscle weakness
- MedGen UID: 107956
- Concept ID: C0587246
- Finding: Finding
Abnormality of limbs
- Clubfoot
- 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
- Premature birth
Premature birth
- MedGen UID: 57721
- Concept ID: C0151526
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Decreased fetal movement
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Hyperhidrosis
- Abnormality of the musculoskeletal system
- Camptodactyly of finger
Camptodactyly of finger
- MedGen UID: 98041
- Concept ID: C0409348
- Finding: Finding
Abnormality of the musculoskeletal system
- Denervation of the diaphragm
Denervation of the diaphragm
- MedGen UID: 346925
- Concept ID: C1858529
- Finding: Finding
Abnormality of the musculoskeletal system
- Diaphragmatic eventration
Diaphragmatic eventration
- MedGen UID: 8359
- Concept ID: C0011981
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Diaphragmatic paralysis
Diaphragmatic paralysis
- MedGen UID: 1632032
- Concept ID: C4551685
- Finding: Finding
Abnormality of the musculoskeletal system
- Diaphragmatic weakness
Diaphragmatic weakness
- MedGen UID: 101067
- Concept ID: C0521532
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal amyotrophy
Distal amyotrophy
- MedGen UID: 338530
- Concept ID: C1848736
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: neuropathic changes
EMG: neuropathic changes
- MedGen UID: 867363
- Concept ID: C4021727
- Finding: Finding
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- Finding: Disease or Syndrome
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
- Camptodactyly of finger
- Abnormality of the nervous system
- Axonal degeneration
Axonal degeneration
- MedGen UID: 332464
- Concept ID: C1837496
- Finding: Finding
Abnormality of the nervous system
- Decreased nerve conduction velocity
Decreased nerve conduction velocity
- MedGen UID: 347509
- Concept ID: C1857640
- 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
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal degeneration
Peripheral axonal degeneration
- MedGen UID: 871339
- Concept ID: C4025830
- Finding: Finding
Abnormality of the nervous system
- Axonal degeneration
- Abnormality of the respiratory system
- Inspiratory stridor
Inspiratory stridor
- MedGen UID: 146165
- Concept ID: C0677600
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Tachypnea
Tachypnea
- MedGen UID: 66669
- Concept ID: C0231835
- Finding: Finding
Abnormality of the respiratory system
- Ventilator dependence with inability to wean
Ventilator dependence with inability to wean
- MedGen UID: 870643
- Concept ID: C4025097
- Finding: Finding
Abnormality of the respiratory system
- Inspiratory stridor
- Abnormality of the voice
- Weak cry
Weak cry
- MedGen UID: 65892
- Concept ID: C0234860
- Finding: Finding
Abnormality of the voice
- Weak cry
- Constitutional symptom
- Urinary incontinence
Urinary incontinence
- MedGen UID: 22579
- Concept ID: C0042024
- Finding: Finding
Constitutional symptom
- Urinary incontinence
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Failure to thrive
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