NEMALINE MYOPATHY 5

General Information (adopted from Orphanet):

Synonyms, Signs: AMISH NEMALINE MYOPATHY
NEMALINE MYOPATHY, AMISH TYPE
NEM5
ANM
Number of Symptoms 27
OrphanetNr:
OMIM Id: 605355
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:0002194) Delayed gross motor development 37 / 7739
2
 (HPO:0001337) Tremor 200 / 7739
3
 (HPO:0002063) Rigidity 92 / 7739
4
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
5
 (HPO:0003044) Shoulder flexion contracture 5 / 7739
6
 (HPO:0003273) Hip contracture 30 / 7739
7
 (HPO:0000768) Pectus carinatum 136 / 7739
8
 (HPO:0003184) Decreased hip abduction 7 / 7739
9
 (HPO:0002093) Respiratory insufficiency 410 / 7739
10
 (HPO:0003198) Myopathy 151 / 7739
11
 (HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
12
 (HPO:0003323) Progressive muscle weakness 17 / 7739
13
 (HPO:0007126) Proximal amyotrophy 29 / 7739
14
 (HPO:0003798) Nemaline bodies 12 / 7739
15
 (OMIM) Chest wall rigidity 2 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Tremors subside over the first 2 to 3 months of life 1 / 7739
18
 (OMIM) Muscle biopsy shows nemaline bodies (rods) on Gomori trichrome staining 2 / 7739
19
 (OMIM) Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes 2 / 7739
20
 (OMIM) Muscle biopsy shows myofiber degeneration 1 / 7739
21
 (OMIM) Normal intelligence 81 / 7739
22
 (OMIM) Contractures, proximal, progressive (shoulders and hips, present at birth) 1 / 7739
23
 (OMIM) Muscle biopsy shows myofibrillar disruption 1 / 7739
24
 (OMIM) Pectus carinatum, severe 1 / 7739
25
 (OMIM) Muscle atrophy, progressive 2 / 7739
26
 (OMIM) Tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles 1 / 7739
27
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Between 1988 and 2000, Johnston et al. (2000) treated or obtained clinical information on 71 infants and young children from 33 nuclear families with an apparently unique form of nemaline myopathy. Since the disorder occurred among the Old ...
Molecular genetics OMIM Because the TNNT1 gene mapped within the candidate region on chromosome 19q13 for nemaline myopathy, Johnston et al. (2000) sequenced the gene in Amish patients with the disorder and identified a nonsense mutation predicted to truncate the protein ...
Population genetics OMIM Johnston et al. (2000) estimated that the disorder has an incidence of 1 in 500 among the Amish.