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Spinal muscular atrophy with respiratory distress type 1
Disease definition
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
ORPHA:98920
Classification level: Disorder- Synonym(s):
- Autosomal recessive distal spinal muscular atrophy type 1
- Autosomal recessive spinal muscular atrophy with respiratory distress
- Diaphragmatic spinal muscular atrophy
- Distal hereditary motor neuropathy type 6
- Distal-HMN type 6
- SIANRF
- SMARD1
- Severe infantile axonal neuropathy with respiratory failure type 1
- dHMN6
- dSMA1
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: G12.2
- OMIM: 604320
- UMLS: C1858517
- MeSH: -
- GARD: 8592
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()
Detailed information
General public
- Article for general public
- Svenska (2020) - Socialstyrelsen
Guidelines
- Anesthesia guidelines
- Czech (2014) - Orphananesthesia
- Deutsch (2022) - Orphananesthesia
- English (2022) - Orphananesthesia
- Español (2022) - Orphananesthesia
Disability
- Disability factsheet
- Français (2019, pdf) - Orphanet
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.