NEMALINE MYOPATHY 4

General Information (adopted from Orphanet):

Synonyms, Signs: NEM4 CAP MYOPATHY 2, INCLUDED
CAPM2, INCLUDED
Number of Symptoms 34
OrphanetNr:
OMIM Id: 609285
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001349) Facial diplegia 16 / 7739
2
(HPO:0002058) Myopathic facies 26 / 7739
3
(HPO:0000467) Neck muscle weakness 29 / 7739
4
(HPO:0000218) High palate 356 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0001265) Hyporeflexia 208 / 7739
7
(HPO:0002355) Difficulty walking 61 / 7739
8
(HPO:0002515) Waddling gait 56 / 7739
9
(HPO:0002751) Kyphoscoliosis 131 / 7739
10
(HPO:0001371) Flexion contracture 220 / 7739
11
(HPO:0003691) Scapular winging 51 / 7739
12
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
13
(HPO:0011968) Feeding difficulties 240 / 7739
14
(HPO:0002792) Reduced vital capacity 17 / 7739
15
(HPO:0003690) Limb muscle weakness 41 / 7739
16
(HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
17
(HPO:0003798) Nemaline bodies 12 / 7739
18
(HPO:0003391) Gowers sign 37 / 7739
19
(HPO:0001324) Muscle weakness 859 / 7739
20
(HPO:0001252) Muscular hypotonia 990 / 7739
21
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
(HPO:0010547) Muscle flaccidity 466 / 7739
23
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
24
(OMIM) Abnormal irregular myofibrillar network 1 / 7739
25
(HPO:0003828) Variable expressivity 130 / 7739
26
(OMIM) Decreased left ventricular ejection fraction (reported in 1 patient) 2 / 7739
27
(OMIM) Delayed motor milestones due to muscle weakness 1 / 7739
28
(OMIM) Subsarcolemmal nemaline bodies (rods) on Gomori trichrome staining 1 / 7739
29
(OMIM) Decreased vital capacity due to muscle weakness 1 / 7739
30
(OMIM) Type 1 fiber atrophy seen on muscle biopsy 1 / 7739
31
(OMIM) Type 1 fiber predominance seen on muscle biopsy 1 / 7739
32
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
(OMIM) Increased variability of fiber size seen on muscle biopsy 1 / 7739
34
(OMIM) Cap structures, when present, contain disorganized myofibrils and thickened Z bands 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Donner et al. (2002) reported a woman with nemaline myopathy who presented at age 12 years with difficulty in walking. She had a mild form of the disorder with asymmetric limb involvement and mild facial and neck flexor ...
Molecular genetics OMIM In a woman with childhood-onset nemaline myopathy, Donner et al. (2002) identified a heterozygous mutation in the TPM2 gene (190990.0002). In another family, of Bosnian origin, they identified a heterozygous mutation in the TPM2 gene (190990.0003) in both ...