MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 609500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001263) Global developmental delay 853 / 7739
2
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
(HPO:0003198) Myopathy 151 / 7739
5
(HPO:0003736) Autophagic vacuoles 5 / 7739
6
(HPO:0001319) Neonatal hypotonia 101 / 7739
7
(OMIM) Biopsy shows deposition of complement proteins C5b-9 of the membrane attack complex on muscle fibers or in vacuoles 1 / 7739
8
(OMIM) Normal LAMP2 staining (309060) 1 / 7739
9
(HPO:0003745) Sporadic 131 / 7739
10
(OMIM) Increased lysosomal glycogen 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Neonatal hypotonia Muscle biopsy shows PAS-positive vacuoles 1 / 7739
13
(OMIM) Biopsy shows cardiomyocytes with PAS-positive vacuoles 1 / 7739
14
(OMIM) Normal alpha-glucosidase or acid maltase activity (GAA, 606800) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Infantile-onset autophagic vacuolar myopathy is characterized by increased cardiac and skeletal muscle glycogen with normal acid maltase (GAA; 606800). Skeletal muscle biopsy shows characteristic intracytoplasmic vacuoles that stain for sarcolemmal proteins and complement proteins.

Similar pathologic ...

Clinical Description OMIM Atkin et al. (1984) described fatal infantile cardiac glycogenosis without acid maltase deficiency in a male hydropic newborn.

Verloes et al. (1997) reported a boy with infantile onset of lethal hypertrophic vacuolar cardiomyopathy. The unrelated parents ...