MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 300717
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0001315) Reduced tendon reflexes 160 / 7739
3
(HPO:0001284) Areflexia 198 / 7739
4
(HPO:0001371) Flexion contracture 220 / 7739
5
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
(HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
7
(HPO:0009073) Progressive proximal muscle weakness 8 / 7739
8
(OMIM) Skeletal muscle biopsy shows reducing bodies 2 / 7739
9
(OMIM) Internal nuclei 9 / 7739
10
(OMIM) Respiratory insufficiency due to muscle weakness leading to ventilator dependency 1 / 7739
11
(OMIM) Cytoplasmic inclusion bodies 2 / 7739
12
(OMIM) Inclusions stain positively with nitroblue tetrazolium (NBT) 2 / 7739
13
(OMIM) Loss of antigravity strength 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brooke and Neville (1972) reported 2 unrelated girls with a severe progressive fatal muscle disorder. One girl had onset before age 8 weeks of hypotonia, contractures, and respiratory muscle weakness. She died at age 2.5 years. The second ...
Molecular genetics OMIM In 2 unrelated girls with severe, early-onset reducing body myopathy, Schessl et al. (2008) identified a de novo heterozygous mutation in the FHL1 gene (300163.0004 and 300163.0005, respectively).

In 1 of the patients reported by Kiyomoto ...