Congenital myopathy with excess of thin filaments

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED
NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED
NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED
Actin myopathy
Number of Symptoms 57
OrphanetNr: 98904
OMIM Id: 161800
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of alpha-actin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002058) Myopathic facies 26 / 7739
2
(HPO:0003722) Neck flexor weakness 13 / 7739
3
(HPO:0000298) Mask-like facies 44 / 7739
4
(HPO:0000218) High palate 356 / 7739
5
(HPO:0000278) Retrognathia 100 / 7739
6
(HPO:0000467) Neck muscle weakness 29 / 7739
7
(HPO:0010628) Facial palsy 146 / 7739
8
(HPO:0001347) Hyperreflexia 363 / 7739
9
(HPO:0001265) Hyporeflexia 208 / 7739
10
(HPO:0001284) Areflexia 198 / 7739
11
(HPO:0001270) Motor delay 322 / 7739
12
(HPO:0001276) Hypertonia 317 / 7739
13
(HPO:0007034) Generalized hyperreflexia 33 / 7739
14
(HPO:0002267) Exaggerated startle response 42 / 7739
15
(HPO:0002063) Rigidity 92 / 7739
16
(HPO:0002515) Waddling gait 56 / 7739
17
(HPO:0002359) Frequent falls 24 / 7739
18
(HPO:0002015) Dysphagia 301 / 7739
19
(HPO:0003307) Hyperlordosis 122 / 7739
20
(HPO:0001371) Flexion contracture 220 / 7739
21
(HPO:0001761) Pes cavus 225 / 7739
22
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
23
(HPO:0002650) Scoliosis 705 / 7739
24
(HPO:0005684) Distal arthrogryposis 31 / 7739
25
(HPO:0003306) Spinal rigidity 30 / 7739
26
(HPO:0001558) Decreased fetal movement 74 / 7739
27
(HPO:0001561) Polyhydramnios 191 / 7739
28
(HPO:0001533) Slender build 11 / 7739
29
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
30
(HPO:0001283) Bulbar palsy 31 / 7739
31
(HPO:0003324) Generalized muscle weakness 48 / 7739
32
(HPO:0001319) Neonatal hypotonia 101 / 7739
33
(HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
34
(OMIM) Distal limb muscle weakness occurs later 3 / 7739
35
(OMIM) Normal or mildly increased serum creatine kinase 6 / 7739
36
(OMIM) Proximal limb muscle weakness initially 2 / 7739
37
(OMIM) Inability to run 3 / 7739
38
(OMIM) Tent-shaped mouth 2 / 7739
39
(Orphanet:46280) Joint/articular deformation 3 / 7739
40
(OMIM) Increased fatty infiltration 2 / 7739
41
(OMIM) Myopathic changes early in disease seen on EMG 2 / 7739
42
(OMIM) Slow gross motor activity 2 / 7739
43
(OMIM) Reduced muscle bulk 1 / 7739
44
(OMIM) Severe form may never achieve sitting or walking 1 / 7739
45
(OMIM) 'Stiffness' 5 / 7739
46
(OMIM) Nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy 1 / 7739
47
(OMIM) Nemaline bodies are usually subsarcolemmal or sarcoplasmic 2 / 7739
48
(OMIM) Normal fine motor activity 2 / 7739
49
(OMIM) Neurogenic changes later in disease seen on EMG 2 / 7739
50
(OMIM) Severe form shows absence of spontaneous activity at birth 1 / 7739
51
(OMIM) Nemaline bodies (rods) on Gomori trichrome staining seen on muscle biopsy 1 / 7739
52
(OMIM) Extraocular muscles are not involved 2 / 7739
53
(OMIM) Poor feeding due to muscle weakness 5 / 7739
54
(OMIM) Elongated face 4 / 7739
55
(OMIM) Decreased muscle density on imaging 2 / 7739
56
(OMIM) Absent gag reflex 4 / 7739
57
(OMIM) Nemaline bodies are rarely intranuclear 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and ...
Clinical Description OMIM - Early Descriptions

The condition described by Gibson (1921) as 'muscular infantilism' in a family spanning 3 generations may have been nemaline myopathy.

Shy et al. (1963) reported a slowly progressive 'new congenital myopathy' ...

Molecular genetics OMIM In 10 unrelated patients with nemaline myopathy of varying severity, Nowak et al. (1999) identified 10 different heterozygous mutations in the ACTA1 gene (see, e.g., 102610.0002). In 1 family, a mother and 2 children were affected, indicating autosomal ...