Congenital muscular dystrophy due to LMNA mutation

General Information (adopted from Orphanet):

Synonyms, Signs: MDCL
L-CMD
LMNA-related congenital muscular dystrophy
Number of Symptoms 49
OrphanetNr: 157973
OMIM Id: 613205
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 15 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000467) Neck muscle weakness 29 / 7739
2
 (HPO:0000464) Abnormality of the neck Very frequent [Orphanet] 31 / 7739
3
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
4
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
7
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
8
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
9
 (HPO:0003306) Spinal rigidity Frequent [Orphanet] 30 / 7739
10
 (HPO:0003028) Abnormality of the ankles Occasional [Orphanet] 14 / 7739
11
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
12
 (HPO:0001883) Talipes 12 / 7739
13
 (HPO:0001371) Flexion contracture 220 / 7739
14
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
15
 (HPO:0001557) Prenatal movement abnormality Occasional [Orphanet] 16 / 7739
16
 (HPO:0001558) Decreased fetal movement 74 / 7739
17
 (HPO:0001508) Failure to thrive 454 / 7739
18
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
19
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
20
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
21
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
22
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
23
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
24
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
25
 (HPO:0003700) Generalized amyotrophy 39 / 7739
26
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
27
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
28
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
29
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
30
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
31
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
32
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
33
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
34
 (OMIM) Variability in fiber size 1 / 7739
35
 (OMIM) Conduction abnormalities 2 / 7739
36
 (OMIM) Axial weakness 1 / 7739
37
 (OMIM) Elbow laxity 1 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
40
 (OMIM) Muscle weakness, severe, proximal and distal 1 / 7739
41
 (OMIM) Head drop due to neck muscle weakness 1 / 7739
42
 (OMIM) Loss of head control 1 / 7739
43
 (OMIM) Floppy neck 1 / 7739
44
 (OMIM) Dystrophic features and atrophic fibers seen on muscle biopsy 1 / 7739
45
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
46
 (HPO:0003676) Progressive disorder 148 / 7739
47
 (OMIM) Stiff spine 2 / 7739
48
 (HPO:0003828) Variable expressivity 130 / 7739
49
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mercuri et al. (2004) reported a patient with LMNA-related congenital muscular dystrophy. The infant lost the ability to roll over at age 5 months, and later showed difficulties in lifting her arms and head. Other features included feeding ...
Molecular genetics OMIM In a patient with LMNA-related congenital muscular dystrophy, Mercuri et al. (2004) identified a de novo heterozygous mutation in the LMNA gene (E3358K; 150330.0049). Four additional unrelated patients with less severe muscular dystrophy, including EDMD2 (181350) and LGMD1B ...