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Autosomal dominant congenital benign spinal muscular atrophy
Disease definition
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
ORPHA:1216
Classification level: Disorder- Synonym(s):
- Autosomal dominant benign distal spinal muscular atrophy
- Congenital benign spinal muscular atrophy with contractures
- Congenital nonprogressive spinal muscular atrophy
- Prevalence: -
- Inheritance: Autosomal dominant
- Age of onset: Antenatal, Neonatal
- ICD-10: G12.1
- OMIM: 600175
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Español (2014, pdf)
- English (2014, pdf)
- Deutsch (2014, pdf)
- Clinical genetics review
- English (2014)
Additional information
Further information on this disease
Health care 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.