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: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0002380) Fasciculations 42 / 7739
3
(HPO:0003701) Proximal muscle weakness 105 / 7739
4
(HPO:0003445) EMG: neuropathic changes 21 / 7739
5
(HPO:0007269) Spinal muscular atrophy 24 / 7739
6
(OMIM) Muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs 1 / 7739
7
(OMIM) EMG shows neurogenic abnormalities 8 / 7739
8
(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 ...