Myosclerosis

General Information (adopted from Orphanet):

Synonyms, Signs: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL
MYOPATHY, MYOSCLEROTIC
Congenital myosclerosis, Löwenthal type
Number of Symptoms 27
OrphanetNr: 289380
OMIM Id: 255600
ICD-10: G71.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Non-dystrophic myopathy with collagen 6 anomaly
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0005997) Restricted neck movement due to contractures 4 / 7739
3
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
4
 (HPO:0001771) Achilles tendon contracture 27 / 7739
5
 (HPO:0003306) Spinal rigidity 30 / 7739
6
 (HPO:0002944) Thoracolumbar scoliosis 13 / 7739
7
 (HPO:0004322) Short stature 1232 / 7739
8
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
9
 (HPO:0005952) Decreased pulmonary function 8 / 7739
10
 (HPO:0003701) Proximal muscle weakness 105 / 7739
11
 (HPO:0002460) Distal muscle weakness 122 / 7739
12
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
13
 (HPO:0009025) Increased connective tissue 11 / 7739
14
 (OMIM) Muscle biopsy shows fibrosis and increased connective tissue 1 / 7739
15
 (OMIM) Restrictive pulmonary function 1 / 7739
16
 (OMIM) Limited neck motion due to spinal contractures 1 / 7739
17
 (OMIM) Muscles have a woody consistency on palpation 1 / 7739
18
 (OMIM) Variation of myofiber diameter 1 / 7739
19
 (OMIM) Decreased collagen VI 1 / 7739
20
 (OMIM) Limited mouth opening due to jaw contractures 1 / 7739
21
 (HPO:0003621) Juvenile onset 105 / 7739
22
 (OMIM) Muscle weakness, mild, proximal and distal 1 / 7739
23
 (OMIM) Internal nuclei 9 / 7739
24
 (OMIM) Decreased forced vital capacity 3 / 7739
25
 (OMIM) Severe contractures of all joints, proximal and distal 1 / 7739
26
 (HPO:0003676) Progressive disorder 148 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lowenthal (1954) described symmetrical congenital contractures of the joints in 4 sibs, offspring of normal parents. Sclerosis of both muscle and skin was thought to be present. See muscular dystrophy, congenital, producing arthrogryposis (253900).

Merlini et ...
Molecular genetics OMIM In 2 sibs with myosclerosis, Merlini et al. (2008) identified a homozygous truncating mutation in the COL6A2 gene (120240.0011).