Glycogen storage disease due to acid maltase deficiency, late-onset

General Information (adopted from Orphanet):

Synonyms, Signs: Alpha-1,4-glucosidase acid deficiency, late onset
GSD due to acid maltase deficiency, late onset
GSD type 2, late onset
Glycogen storage disease type 2, late onset
Glycogenosis type 2, late onset
Pompe disease, late onset
Number of Symptoms 46
OrphanetNr: 420429
OMIM Id: 232300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.5 of 100 000 - PMID: 24016645 [IBIS]
Inheritance: Autosomal recessive
- PMID: 25037089 [IBIS]
Age of onset: Childhood
Adolescent
Adult
- PMID: 25037089 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease due to acid maltase deficiency
 -Rare cardiac disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Pompe disease is generally classified based on the age of onset as infantile (IOPD) when it presents during the first year of life, and late onset (LOPD) when it presents afterwards. Childhood, juvenile and adult-onset Pompe disease are examples of the late onset form (PMID:25037089). Pompe disease is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population (PMID:24016645).

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 25037089 IBIS 75 / 7739
2
 (HPO:0000157) Abnormality of the tongue 25037089 IBIS 6 / 7739
3
 (HPO:0010628) Facial palsy 22253010 IBIS 146 / 7739
4
 (HPO:0001488) Bilateral ptosis 25037089 IBIS 42 / 7739
5
 (HPO:0007687) Unilateral ptosis 25037089 IBIS 4 / 7739
6
 (HPO:0000365) Hearing impairment 22253010 IBIS 539 / 7739
7
 (HPO:0001260) Dysarthria 22253010 IBIS 329 / 7739
8
 (HPO:0006824) Cranial nerve paralysis 22253010 IBIS 81 / 7739
9
 (HPO:0001618) Dysphonia 22253010 IBIS 28 / 7739
10
 (HPO:0002015) Dysphagia 23332114 IBIS 301 / 7739
11
 (HPO:0002355) Difficulty walking 25037089 IBIS 61 / 7739
12
 (HPO:0003691) Scapular winging 25037089 IBIS 51 / 7739
13
 (HPO:0003306) Spinal rigidity 22253010; 25037089 IBIS 30 / 7739
14
 (HPO:0002938) Lumbar hyperlordosis 22253010 IBIS 73 / 7739
15
 (HPO:0001762) Talipes equinovarus 22253010 IBIS 309 / 7739
16
 (HPO:0002650) Scoliosis 22253010; 25037089 IBIS 705 / 7739
17
 (HPO:0002014) Diarrhea 25037089 IBIS 225 / 7739
18
 (HPO:0009113) Diaphragmatic weakness Frequent [IBIS] 22253010; 25037089 IBIS 12 / 7739
19
 (HPO:0002018) Nausea 25037089 IBIS 44 / 7739
20
 (HPO:0002013) Vomiting 25037089 IBIS 191 / 7739
21
 (HPO:0002027) Abdominal pain 25037089 IBIS 184 / 7739
22
 (HPO:0004325) Decreased body weight 22253010; 25037089 IBIS 492 / 7739
23
 (HPO:0004942) Aortic aneurysm 22253010 IBIS 10 / 7739
24
 (HPO:0001716) Wolff-Parkinson-White syndrome 25037089 IBIS 21 / 7739
25
 (HPO:0011675) Arrhythmia 22253010 IBIS 226 / 7739
26
 (HPO:0002140) Ischemic stroke 22253010 IBIS 70 / 7739
27
 (HPO:0005111) Dilatation of the ascending aorta 25037089 IBIS 3 / 7739
28
 (HPO:0002597) Abnormality of the vasculature 22253010 IBIS 5 / 7739
29
 (HPO:0001712) Left ventricular hypertrophy 25037089 IBIS 76 / 7739
30
 (HPO:0012518) Abnormality of circle of Willis 25037089 IBIS 1 / 7739
31
 (HPO:0004944) Cerebral aneurysm 22253010; 25037089 IBIS 12 / 7739
32
 (HPO:0003236) Elevated serum creatine phosphokinase Frequent [IBIS] 22253010 IBIS 214 / 7739
33
 (HPO:0004356) Abnormality of lysosomal metabolism 25037089 IBIS 6 / 7739
34
 (HPO:0002093) Respiratory insufficiency 25037089 IBIS 410 / 7739
35
 (HPO:0002094) Dyspnea 25037089 IBIS 132 / 7739
36
 (HPO:0012548) Fatty replacement of skeletal muscle 25037089 IBIS 8 / 7739
37
 (HPO:0003325) Limb-girdle muscle weakness Frequent [IBIS] 22253010; 25037089 IBIS 22 / 7739
38
 (HPO:0003797) Limb-girdle muscle atrophy Frequent [IBIS] 22253010 IBIS 8 / 7739
39
 (HPO:0009051) Increased muscle glycogen content 25037089 IBIS 8 / 7739
40
 (HPO:0001324) Muscle weakness Frequent [IBIS] 22253010 IBIS 859 / 7739
41
 (HPO:0002486) Myotonia 25037089 IBIS 29 / 7739
42
 (HPO:0003391) Gowers sign 22253010 IBIS 37 / 7739
43
 (HPO:0003394) Muscle cramps 22253010 IBIS 106 / 7739
44
 (HPO:0003546) Exercise intolerance Frequent [IBIS] 22253010 IBIS 62 / 7739
45
 (HPO:0001283) Bulbar palsy 25037089 IBIS 31 / 7739
46
 (HPO:0006785) Limb-girdle muscular dystrophy 25037089 IBIS 14 / 7739

Associated genes:

GAA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: