Congenital muscular dystrophy, Ullrich type

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, SCLEROATONIC
ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY
UCMD
Scleroatonic muscular dystrophy
ullrich disease
Number of Symptoms 57
OrphanetNr: 75840
OMIM Id: 254090
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed: 240062007

Prevalence, inheritance and age of onset:

Prevalence: 0.13 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of collagen 6
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
2
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
3
 (HPO:0002783) Recurrent lower respiratory tract infections 8 / 7739
4
 (HPO:0001533) Slender build 11 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
7
 (HPO:0010628) Facial palsy 146 / 7739
8
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
9
 (HPO:0003713) Muscle fiber necrosis 8 / 7739
10
 (HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
11
 (HPO:0003700) Generalized amyotrophy 39 / 7739
12
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
13
 (HPO:0001319) Neonatal hypotonia 101 / 7739
14
 (HPO:0003701) Proximal muscle weakness 105 / 7739
15
 (HPO:0000473) Torticollis 42 / 7739
16
 (HPO:0001270) Motor delay 322 / 7739
17
 (HPO:0006460) Increased laxity of ankles 1 / 7739
18
 (HPO:0001762) Talipes equinovarus 309 / 7739
19
 (HPO:0002827) Hip dislocation 94 / 7739
20
 (HPO:0006149) Increased laxity of fingers 1 / 7739
21
 (HPO:0002808) Kyphosis 289 / 7739
22
 (HPO:0002650) Scoliosis 705 / 7739
23
 (HPO:0003306) Spinal rigidity 30 / 7739
24
 (HPO:0005072) Hyperextensibility at wrists 1 / 7739
25
 (HPO:0001388) Joint laxity 117 / 7739
26
 (HPO:0000975) Hyperhidrosis 64 / 7739
27
 (HPO:0000311) Round face 104 / 7739
28
 (HPO:0000218) High palate 356 / 7739
29
 (HPO:0000411) Protruding ear 140 / 7739
30
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
31
 (HPO:0001371) Flexion contracture 220 / 7739
32
 (HPO:0002877) Nocturnal hypoventilation 9 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (HPO:0003593) Infantile onset 249 / 7739
36
 (HPO:0003676) Progressive disorder 148 / 7739
37
 (HPO:0003828) Variable expressivity 130 / 7739
38
 (OMIM) Absence of collagen VI immunostaining 1 / 7739
39
 (OMIM) Calcaneal protrusion 1 / 7739
40
 (OMIM) Decreased or absent reflexes due to muscle weakness 1 / 7739
41
 (OMIM) Delayed ambulation 2 / 7739
42
 (OMIM) Distal joint laxity 1 / 7739
43
 (OMIM) Facial weakness, mild 6 / 7739
44
 (OMIM) Increased endo- and perimysial connective tissue 1 / 7739
45
 (OMIM) Long, thin limbs 1 / 7739
46
 (OMIM) Low weight due to poor feeding 1 / 7739
47
 (OMIM) Muscle biopsy shows increased variation in fiber size 2 / 7739
48
 (OMIM) Muscle biopsy shows merosin (156225)-positive muscle fibers 1 / 7739
49
 (OMIM) Muscle biopsy shows type 1 fiber predominance 2 / 7739
50
 (OMIM) Muscle fiber regeneration 1 / 7739
51
 (OMIM) Muscle weakness, proximal greater than distal 1 / 7739
52
 (OMIM) Neck weakness 3 / 7739
53
 (OMIM) Normal intelligence 81 / 7739
54
 (OMIM) Normal to mildly increased serum creatine kinase 2 / 7739
55
 (OMIM) Proximal joint contractures 1 / 7739
56
 (OMIM) Respiratory insufficiency due to muscle weakness often requiring ventilatory assistance 1 / 7739
57
 (OMIM) Some patients never achieve ambulation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ullrich (1930) described a congenital muscular dystrophy that he called 'scleroatonic muscular dystrophy.' In most cases, muscle weakness and multiple contractures were noted at birth or in early infancy. Furukawa and Toyokura (1977) described affected sibs. The limitation ...
Genotype-Phenotype Correlations OMIM Baker et al. (2005) studied 5 patients with a clinical diagnosis of UCMD. Three patients had heterozygous in-frame deletions in the N-terminal region of the triple helical domain of type VI collagen (see, e.g., COL6A2 120240.0008 and COL6A3 ...
Molecular genetics OMIM Vanegas et al. (2001) demonstrated recessive mutations in COL6A2 as the cause of UCMD (see, e.g., 120240.0002-120240.0004).

Demir et al. (2002) stated that UCMD behaving as an autosomal recessive disorder and characterized by generalized muscle weakness, ...
Population genetics OMIM Okada et al. (2007) determined that primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan after Fukuyama congenital muscular dystrophy (FCMD), now designated muscular dystrophy-dystroglycanopathy type A4 (MDDGA4; 253800). Collagen VI deficiency accounted ...