| Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) | | Spinal muscular atrophy with lower extremity predominance | | Autosomal dominant childhood-onset proximal spinal muscular atrophy
SMALED - spinal muscular atrophy, lower extremity, dominant
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
| | Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene. | | autosomaal dominante proximale spinale spieratrofie beginnend op kinderleeftijd | | SMA-LED
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| | Id | 772129007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | G12.1 | | Rule | TRUE | | Advice | ALWAYS G12.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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