8B61.4

Localised spinal muscular atrophy

Atrofia muscular espinal localizada

Category

Definition

This category comprises a group of disorders with a varied pattern of weakness and autosomal dominant or X-linked recessive inheritance with specific genetic profiles.

Index Terms

Localised spinal muscular atrophylocalised SMA - [spinal muscular atrophy]Distal form of spinal muscular atrophyDistal hereditary motor neuropathyDistal HMN - [hereditary motor neuropathy]Distal hereditary motor neuropathy, autosomal dominantDistal spinal muscular atrophy, autosomal dominantDistal HMN - [hereditary motor neuropathy] autosomal dominantAutosomal dominant benign distal spinal muscular atrophyAutosomal dominant congenital benign spinal muscular atrophyDistal hereditary motor neuropathy type 1DHMN1 - [Distal hereditary motor neuropathy type 1]Distal hereditary motor neuropathy type 2DHMN2 - [Distal hereditary motor neuropathy type 2]Distal hereditary motor neuropathy type 5DHMN5 - [Distal hereditary motor neuropathy type 5]Distal hereditary motor neuropathy type 7DHMN7 - [Distal hereditary motor neuropathy type 7]Distal hereditary motor neuropathy, autosomal recessiveDistal spinal muscular atrophy, autosomal recessiveDistal HMN - [hereditary motor neuropathy] autosomal recessiveAutosomal recessive lower motor neuron disease with childhood onsetAutosomal recessive distal spinal muscular atrophy type 4dSMA4 - [Autosomal recessive distal spinal muscular atrophy type 4]Distal hereditary motor neuropathy type 3 and type 4dSMA3 and dSMA4 - [Distal hereditary motor neuropathy type 3 and type 4]Distal hereditary motor neuropathy, Jerash typeDistal spinal muscular atrophy type 2Spinal muscular atrophy with respiratory distressDistal hereditary motor neuronopathy type 6Severe infantile axonal neuropathy with respiratory failureSMARD - [Spinal muscular atrophy with respiratory distress]Distal hereditary motor neuropathy, X-linkedDistal HMN, X-linkedDistal spinal muscular atrophy, X-linkedScapuloperoneal form of spinal muscular atrophySPSMA - [Scapuloperoneal form of spinal muscular atrophy]Facioscapulohumeral form of spinal muscular atrophyFSHSMA - [Facioscapulohumeral form of spinal muscular atrophy]Facioscapulohumeral form of spinal muscular atrophy with sensory lossDavidenkow DiseaseScapulohumeral form of spinal muscular atrophyOculopharyngeal form of spinal muscular atrophyRyukyu type of spinal muscular atrophyBulbospinal muscular atrophyKennedy DiseaseSpinal and bulbar muscular atrophy