MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: CFTDX
Number of Symptoms 25
OrphanetNr:
OMIM Id: 300580
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:0004661) Frontalis muscle weakness 2 / 7739
2
(HPO:0000347) Micrognathia 426 / 7739
3
(HPO:0010628) Facial palsy 146 / 7739
4
(HPO:0000508) Ptosis 459 / 7739
5
(HPO:0001561) Polyhydramnios 191 / 7739
6
(HPO:0002033) Poor suck 37 / 7739
7
(HPO:0004325) Decreased body weight 492 / 7739
8
(HPO:0001510) Growth delay 295 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(HPO:0001644) Dilated cardiomyopathy 141 / 7739
11
(HPO:0002098) Respiratory distress 75 / 7739
12
(HPO:0001612) Weak cry 17 / 7739
13
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
14
(HPO:0008935) Generalized neonatal hypotonia 9 / 7739
15
(HPO:0003198) Myopathy 151 / 7739
16
(HPO:0003755) Type 1 fibers relatively smaller than type 2 fibers 2 / 7739
17
(OMIM) Muscle biopsy shows no dystrophic changes 1 / 7739
18
(OMIM) Respiratory distress due to muscle weakness, often fatal 1 / 7739
19
(HPO:0001423) X-linked dominant inheritance 69 / 7739
20
(OMIM) Muscle biopsy shows fiber type disproportion 1 / 7739
21
(OMIM) Horizontal smile 1 / 7739
22
(OMIM) Relatively preserved limb strength 1 / 7739
23
(OMIM) Type 1 fibers are at least 12% smaller than type 2 fibers 2 / 7739
24
(OMIM) Respiratory muscle weakness, severe 1 / 7739
25
(OMIM) Lung hypoplasia at birth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Clarke et al. (2005) reported a 4-generation Australian family in which at least 7 males had marked congenital muscle weakness inherited in an X-linked pattern. All presented at birth with bilateral ptosis, facial weakness, poor suck, weak cry, ...