Muscular dystrophy, Selcen type

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
MFM6
Number of Symptoms 40
OrphanetNr: 199340
OMIM Id: 612954
ICD-10: G71.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myofibrillar myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0003388) Easy fatigability 34 / 7739
3
 (HPO:0007108) Demyelinating peripheral neuropathy 8 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0003447) Axonal loss 11 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0002650) Scoliosis 705 / 7739
8
 (HPO:0006380) Knee flexion contracture 56 / 7739
9
 (HPO:0003306) Spinal rigidity 30 / 7739
10
 (HPO:0001761) Pes cavus 225 / 7739
11
 (HPO:0006597) Diaphragmatic paralysis 16 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
13
 (HPO:0001723) Restrictive cardiomyopathy 22 / 7739
14
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
15
 (HPO:0001611) Nasal speech 48 / 7739
16
 (HPO:0002093) Respiratory insufficiency 410 / 7739
17
 (HPO:0003560) Muscular dystrophy 88 / 7739
18
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
19
 (HPO:0003700) Generalized amyotrophy 39 / 7739
20
 (HPO:0003715) Myofibrillar myopathy 9 / 7739
21
 (OMIM) Stiff spine 2 / 7739
22
 (OMIM) Ankle valgus deformity 2 / 7739
23
 (OMIM) Markedly increased serum creatine kinase 1 / 7739
24
 (OMIM) Muscle weakness, severe, diffuse 1 / 7739
25
 (OMIM) Toe-walking in early childhood 1 / 7739
26
 (OMIM) Z-disk degeneration 2 / 7739
27
 (OMIM) Reduced forced vital capacity 3 / 7739
28
 (OMIM) Clumsy gait 3 / 7739
29
 (OMIM) Internal nuclei 9 / 7739
30
 (OMIM) Apoptotic nuclei 1 / 7739
31
 (OMIM) Z-disk streaming 2 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
 (OMIM) Necrotic fibers 2 / 7739
34
 (OMIM) Contractures of the knees and ankles 1 / 7739
35
 (HPO:0003678) Rapidly progressive 33 / 7739
36
 (OMIM) Axonal and demyelinating peripheral neuropathy (in some patients) 2 / 7739
37
 (OMIM) Sarcoplasmic accumulation of electron-dense granulofilamentous material 1 / 7739
38
 (OMIM) Skeletal muscle biopsy shows dystrophic changes 3 / 7739
39
 (OMIM) Variation in fiber size 8 / 7739
40
 (OMIM) [DEL]Myopathic changes seen on EMG 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Selcen et al. (2009) reported 3 unrelated children, 2 boys and a girl, with early-onset rapidly progressive myofibrillar myopathy. The first patients had been a toe-walker since early childhood. In his early teens, he experienced a restrictive cardiomyopathy ...
Molecular genetics OMIM In 3 unrelated patients with childhood-onset of rapidly progressive myofibrillar myopathy, Selcen et al. (2009) identified the same heterozygous mutation in the BAG3 gene (P209L; 603883.0001). Lee et al. (2012) identified a de novo heterozygous P209L mutation in ...