Proximal spinal muscular atrophy type 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE SMA-IV SMA4 spinal muscular atrophy, adult form |
| Number of Symptoms | 14 |
| OrphanetNr: | 83420 |
| OMIM Id: |
271150
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| ICD-10: |
G12.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.32 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Proximal spinal muscular atrophy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001308) | Tongue fasciculations | 18 / 7739 | ||||
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(HPO:0002378) | Hand tremor | 9 / 7739 | ||||
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(HPO:0002398) | Degeneration of anterior horn cells | 14 / 7739 | ||||
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(HPO:0002522) | Areflexia of lower limbs | 16 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0007126) | Proximal amyotrophy | 29 / 7739 | ||||
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(HPO:0007269) | Spinal muscular atrophy | 24 / 7739 | ||||
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(HPO:0003445) | EMG: neuropathic changes | 21 / 7739 | ||||
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(OMIM) | EMG shows neurogenic abnormalities | 8 / 7739 | ||||
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(OMIM) | Hypertrophy of calves (in 3 of 6 patients) | 1 / 7739 | ||||
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(OMIM) | Muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy | 5 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Pearn et al. (1978) described 9 patients from 6 families with adult-onset spinal muscular atrophy. The median age at onset was 35 years, and the mean age at initial medical presentation was 37 years. The condition was relatively ... |
| Molecular genetics OMIM |
In 6 patients with SMA4, Brahe et al. (1995) identified deletion of exons 7 and 8 of the SMN1 gene, indicating that autosomal recessive adult SMA is allelic to the childhood forms of SMA. Mazzei et ... |