NEMALINE MYOPATHY 6

General Information (adopted from Orphanet):

Synonyms, Signs: NEM6
Number of Symptoms 26
OrphanetNr:
OMIM Id: 609273
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:0003722) Neck flexor weakness 13 / 7739
2
(HPO:0001288) Gait disturbance 318 / 7739
3
(HPO:0001324) Muscle weakness 859 / 7739
4
(HPO:0003198) Myopathy 151 / 7739
5
(HPO:0003551) Difficulty climbing stairs 23 / 7739
6
(HPO:0003690) Limb muscle weakness 41 / 7739
7
(HPO:0003552) Muscle stiffness 23 / 7739
8
(HPO:0009046) Difficulty running 17 / 7739
9
(HPO:0001252) Muscular hypotonia 990 / 7739
10
(HPO:0003798) Nemaline bodies 12 / 7739
11
(OMIM) Muscle biopsy shows type 1 fiber predominance and hypertrophy 1 / 7739
12
(OMIM) Normal motor development 2 / 7739
13
(OMIM) Difficulty climbing stairs, jumping, running 2 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Poor exercise tolerance 1 / 7739
16
(HPO:0003677) Slow progression 134 / 7739
17
(OMIM) Muscle biopsy shows nemaline bodies (rods) on Gomori trichrome staining 2 / 7739
18
(OMIM) Muscle biopsy shows core-like regions devoid of oxidative activity 1 / 7739
19
(OMIM) Limb muscle weakness, proximal, upper and lower 2 / 7739
20
(OMIM) Distal muscle weakness and atrophy 3 / 7739
21
(OMIM) Slow motor responses to sudden events (i.e., falling) 1 / 7739
22
(OMIM) Imaging shows progressive fatty infiltration of muscle 1 / 7739
23
(OMIM) No facial weakness 3 / 7739
24
(OMIM) Muscle biopsy shows loss of myofibrillar organization 2 / 7739
25
(OMIM) Gait abnormalities due to muscle weakness 1 / 7739
26
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. ...
Clinical Description OMIM Gommans et al. (2002) reported a 5-generation Dutch family with autosomal dominant nemaline myopathy. The homogeneous clinical phenotype was characterized by normal early motor development followed by onset in childhood of difficulty running, climbing stairs, jumping, and lifting ...
Molecular genetics OMIM In affected members of 4 unrelated families with nemaline myopathy-6 (Gommans et al., 2002; Olive et al., 2010), Sambuughin et al. (2010) identified heterozygous missense mutations in the KBTBD13 gene (613727.0001 and 613727.0002). Another patient with sporadic disease ...