Spinal muscular atrophy

Symptom Information:

Symptom ID: HPO:0007269
Synonyms:
Spinal muscular atrophy [OMIM:Spinal muscular atrophy]
Spinal muscular atrophy [MedDRA:10041582]
Quality:
Cross references:
OMIM: "Spinal muscular atrophy" [OMIM:Spinal muscular atrophy]
Is a (Direct Parents):
MedDRA Neurological disorders congenital NEC
HPO         Skeletal muscle atrophy
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Skeletal muscle atrophy(HPO:0003202)
                Spinal muscular atrophy(HPO:0007269)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Neurological disorders congenital NEC(MedDRA:10029300)
          Spinal muscular atrophy(HPO:0007269)
Database Frequency: 24 / 7739
Resource:

All diseases associated with this symptom:

Adult-onset proximal spinal muscular atrophy, autosomal dominant (Orphanet:209335)
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (Orphanet:363454)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures (Orphanet:209341)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal recessive lower motor neuron disease with childhood onset (Orphanet:206580)
Distal hereditary motor neuropathy, Jerash type (Orphanet:139552)
Distal spinal muscular atrophy type 3 (Orphanet:139547)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Lower motor neuron syndrome with late-adult onset (Orphanet:276435)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Proximal spinal muscular atrophy (Orphanet:70)
Proximal spinal muscular atrophy type 2 (Orphanet:83418)
Proximal spinal muscular atrophy type 3 (Orphanet:83419)
Proximal spinal muscular atrophy type 4 (Orphanet:83420)
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION (OMIM:271109)
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE (OMIM:182970)
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE (OMIM:271200)
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL (OMIM:271220)
Spinal muscular atrophy with respiratory distress (Orphanet:98920)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked distal spinal muscular atrophy (Orphanet:139557)
Young adult-onset distal hereditary motor neuropathy (Orphanet:314485)