LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 606183
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0008003) Jerky ocular pursuit movements 4 / 7739
3
 (HPO:0007289) Limb fasciculations 2 / 7739
4
 (HPO:0001618) Dysphonia 28 / 7739
5
 (HPO:0002073) Progressive cerebellar ataxia 27 / 7739
6
 (HPO:0002066) Gait ataxia 327 / 7739
7
 (HPO:0001310) Dysmetria 76 / 7739
8
 (HPO:0006511) Laryngeal stridor 6 / 7739
9
 (HPO:0001609) Hoarse voice 34 / 7739
10
 (HPO:0002094) Dyspnea 132 / 7739
11
 (HPO:0003693) Distal amyotrophy 118 / 7739
12
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
13
 (HPO:0003581) Adult onset 117 / 7739
14
 (OMIM) Nocturnal dyspnea 1 / 7739
15
 (HPO:0001272) Cerebellar atrophy 197 / 7739
16
 (OMIM) EMG shows neurogenic findings 1 / 7739
17
 (OMIM) Mild distal muscle atrophy 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Glottic airway narrowing caused by laryngeal abductor paralysis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: