MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 255160
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
(HPO:0003704) Scapuloperoneal weakness 6 / 7739
3
(HPO:0003697) Scapuloperoneal amyotrophy 5 / 7739
4
(HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
5
(OMIM) Muscle biopsy shows type I fiber predominance 1 / 7739
6
(OMIM) Subsarcolemmal hyaline bodies in 25-30% type I fibers only 1 / 7739
7
(OMIM) Positive staining for slow myosin heavy chain 1 / 7739
8
(OMIM) No staining for oxidative enzymes 1 / 7739
9
(OMIM) No staining for periodic acid Schiff (PAS) 1 / 7739
10
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739
11
(OMIM) Positive staining for ATPase activity at pH of 4.3 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyaline body myopathy is a rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type I muscle fibers.

See also autosomal dominant hyaline body myopathy (608358).
Clinical Description OMIM Onengut et al. (2004) reported 2 brothers with hyaline body myopathy; 1 of the brothers recalled weakness from childhood, but did not become severely symptomatic until age 28, whereas the other brother was asymptomatic until age 33 years. ...