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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Neuralgic amyotrophy

VAPB SEPT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VAPB
(0.49)
SEPT9



Citations in the biomedical literature:


Adult-onset proximal spinal muscular atrophy, autosomal dominant
VAPB
Neuralgic amyotrophy
SEPT9



Adult-onset proximal spinal muscular atrophy, autosomal dominant
Neuralgic amyotrophy

Synonym(s):
- Finkel disease

Synonym(s):
- Acute brachial plexus neuritis
- Brachial plexus neuritis
- Immune brachial plexus neuropathy
- Mononeuritis multiplex with brachial predilection
- Neuralgic shoulder amyotrophy
- Serum neuritis
- Winged scapula

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 6-9 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Neuralgic amyotrophy

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Articular / joint pain / arthralgia
- Muscle weakness / flaccidity
- Neuritis / polyneuritis / multineuritis

Frequent
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Cleft lip and palate
- Elocution disorders / dysarthria / dysphonia
- Microstomia / little mouth
- Peripheral neuropathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Round face
- Short stature / dwarfism / nanism
- Sleep and vigilance disorders


Adult-onset proximal spinal muscular atrophy, autosomal dominant

(no data available)