NEMALINE MYOPATHY 2

General Information (adopted from Orphanet):

Synonyms, Signs: NEM2
Number of Symptoms 63
OrphanetNr:
OMIM Id: 256030
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000218) High palate 356 / 7739
2
(HPO:0003722) Neck flexor weakness 13 / 7739
3
(HPO:0010628) Facial palsy 146 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000467) Neck muscle weakness 29 / 7739
6
(HPO:0002058) Myopathic facies 26 / 7739
7
(HPO:0000478) Abnormality of the eye 126 / 7739
8
(HPO:0000369) Low-set ears 372 / 7739
9
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
10
(HPO:0002515) Waddling gait 56 / 7739
11
(HPO:0001265) Hyporeflexia 208 / 7739
12
(HPO:0001270) Motor delay 322 / 7739
13
(HPO:0002359) Frequent falls 24 / 7739
14
(HPO:0001284) Areflexia 198 / 7739
15
(HPO:0002015) Dysphagia 301 / 7739
16
(HPO:0001547) Abnormality of the rib cage 25 / 7739
17
(HPO:0001371) Flexion contracture 220 / 7739
18
(HPO:0002803) Congenital contracture 45 / 7739
19
(HPO:0005684) Distal arthrogryposis 31 / 7739
20
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
21
(HPO:0003307) Hyperlordosis 122 / 7739
22
(HPO:0002650) Scoliosis 705 / 7739
23
(HPO:0003306) Spinal rigidity 30 / 7739
24
(HPO:0001561) Polyhydramnios 191 / 7739
25
(HPO:0001558) Decreased fetal movement 74 / 7739
26
(HPO:0011968) Feeding difficulties 240 / 7739
27
(HPO:0001533) Slender build 11 / 7739
28
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
29
(HPO:0002104) Apnea 106 / 7739
30
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
31
(HPO:0003690) Limb muscle weakness 41 / 7739
32
(HPO:0003701) Proximal muscle weakness 105 / 7739
33
(HPO:0003324) Generalized muscle weakness 48 / 7739
34
(HPO:0003445) EMG: neuropathic changes 21 / 7739
35
(HPO:0003458) EMG: myopathic abnormalities 38 / 7739
36
(HPO:0001319) Neonatal hypotonia 101 / 7739
37
(HPO:0003798) Nemaline bodies 12 / 7739
38
(HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
39
(HPO:0003810) Late-onset distal muscle weakness 4 / 7739
40
(HPO:0001283) Bulbar palsy 31 / 7739
41
(HPO:0003593) Infantile onset 249 / 7739
42
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
(OMIM) Cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber 1 / 7739
44
(OMIM) Myopathic changes early in disease seen on EMG 2 / 7739
45
(OMIM) Increased fatty infiltration 2 / 7739
46
(OMIM) Failure to achieve sitting or walking (severe form) 1 / 7739
47
(OMIM) Neurogenic changes later in disease seen on EMG 2 / 7739
48
(OMIM) Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes 2 / 7739
49
(OMIM) Slow gross motor activity 2 / 7739
50
(OMIM) Inability to run 3 / 7739
51
(OMIM) Absent gag reflex 4 / 7739
52
(OMIM) Decreased muscle density on imaging 2 / 7739
53
(OMIM) Nemaline bodies are rarely intranuclear 2 / 7739
54
(OMIM) Normal fine motor activity 2 / 7739
55
(Orphanet:46280) Joint/articular deformation 3 / 7739
56
(OMIM) Absence of spontaneous activity at birth (severe form) 1 / 7739
57
(OMIM) Distal limb muscle weakness occurs later 3 / 7739
58
(OMIM) Extraocular muscles are not involved 2 / 7739
59
(OMIM) Nemaline bodies (rods) on Gomori trichrome staining 1 / 7739
60
(OMIM) Normal or mildly increased serum creatine kinase 6 / 7739
61
(OMIM) Nemaline bodies are usually subsarcolemmal or sarcoplasmic 2 / 7739
62
(OMIM) Proximal limb muscle weakness initially 2 / 7739
63
(OMIM) Chest deformities 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wallgren-Pettersson et al. (1999) reported 41 unrelated families with NEM2 suggested by linkage analysis. All were consistent with autosomal recessive inheritance. Wallgren-Pettersson et al. (1999) noted that phenotypic classification of nemaline myopathy is difficult because the disease spectrum ...
Molecular genetics OMIM Pelin et al. (1999) demonstrated mutations in the NEB gene in autosomal recessive typical nemaline myopathy (161650.0001-161650.0006).

Wallgren-Pettersson et al. (2002) identified mutations in the NEB gene in patients with severe congenital nemaline myopathy (see, e.g., ...

Population genetics OMIM Anderson et al. (2004) screened for 2,503-bp deletion in a random sample of 4,090 Ashkenazi Jewish individuals, revealing a carrier frequency of 1 in 108. Lehtokari et al. (2009) identified the 2,502-bp deletion in 14 of 355 probands ...