MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 300718
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0002359) Frequent falls 24 / 7739
3
(HPO:0001265) Hyporeflexia 208 / 7739
4
(HPO:0003307) Hyperlordosis 122 / 7739
5
(HPO:0002650) Scoliosis 705 / 7739
6
(HPO:0003306) Spinal rigidity 30 / 7739
7
(HPO:0001371) Flexion contracture 220 / 7739
8
(HPO:0002808) Kyphosis 289 / 7739
9
(HPO:0001644) Dilated cardiomyopathy rare [HPO:skoehler] 141 / 7739
10
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
12
(HPO:0003701) Proximal muscle weakness 105 / 7739
13
(HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
14
(HPO:0009073) Progressive proximal muscle weakness 8 / 7739
15
(OMIM) Most patients become ventilator-dependent 1 / 7739
16
(HPO:0001417) X-linked inheritance 173 / 7739
17
(OMIM) Hyperextended neck 1 / 7739
18
(HPO:0003678) Rapidly progressive 33 / 7739
19
(OMIM) Winging of the scapulae 1 / 7739
20
(OMIM) Cytoplasmic inclusion bodies 2 / 7739
21
(OMIM) Skeletal muscle biopsy shows reducing bodies 2 / 7739
22
(OMIM) Internal nuclei 9 / 7739
23
(OMIM) Cervical hyperextension 1 / 7739
24
(OMIM) Decreased spinal mobility 1 / 7739
25
(OMIM) Inclusions stain positively with nitroblue tetrazolium (NBT) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity ...
Clinical Description OMIM Kiyomoto et al. (1995) described a 42-year-old woman with distal myopathy in whom skeletal muscle biopsy showed rimmed vacuoles and nitroblue tetrazolium reducing bodies in the cytoplasm.

Goebel et al. (2001) reported a boy who developed ...

Molecular genetics OMIM In 2 unrelated boys with childhood-onset reducing body myopathy, Schessl et al. (2008) identified hemizygous mutations in the FHL1 gene (300163.0006 and 300163.0007, respectively). Both mutations affected the second LIM domain. Both mothers had a less severe phenotype ...