Adult-onset proximal spinal muscular atrophy, autosomal dominant
General Information (adopted from Orphanet):
Synonyms, Signs: |
FINKEL LATE-ADULT TYPE SMA SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT SMAFK Finkel disease |
Number of Symptoms | 8 |
OrphanetNr: | 209335 |
OMIM Id: |
182980
|
ICD-10: |
G12.1 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | 0.1 of 100 000 [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Autosomal dominant proximal spinal muscular atrophy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
|
(HPO:0002380) | Fasciculations | 42 / 7739 | ||||
|
(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
|
(HPO:0003445) | EMG: neuropathic changes | 21 / 7739 | ||||
|
(HPO:0007269) | Spinal muscular atrophy | 24 / 7739 | ||||
|
(OMIM) | Muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs | 1 / 7739 | ||||
|
(OMIM) | EMG shows neurogenic abnormalities | 8 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Description: (OMIM) |
Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by ... |
Clinical Description OMIM |
Pearn (1978) reported 13 patients from 6 kindreds with autosomal dominant proximal spinal muscular atrophy. Median age at disease onset was 37 years. The authors estimated that 30% of adult onset cases of SMA are due to an ... |
Molecular genetics OMIM |
In 3 families with the Finkel type of late-onset spinal muscular atrophy, Nishimura et al. (2004) found a missense mutation in the VAPB gene (605704.0001). They identified the same mutation in another 3 families with ALS8 (608627) and ... |