Tubular aggregate myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: TUBULAR AGGREGATE MYOPATHY
TAM
Number of Symptoms 30
OrphanetNr: 2593
OMIM Id: 160565
ICD-10: G71.2
UMLs: C0410207
MeSH:
MedDRA:
Snomed: 240087000

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000662) Nyctalopia rare [HPO:skoehler] 92 / 7739
2
(HPO:0000544) External ophthalmoplegia rare [HPO:skoehler] 40 / 7739
3
(HPO:0000615) Abnormality of the pupil rare [HPO:skoehler] 39 / 7739
4
(HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
5
(HPO:0002522) Areflexia of lower limbs 16 / 7739
6
(HPO:0003388) Easy fatigability 34 / 7739
7
(HPO:0002359) Frequent falls 24 / 7739
8
(HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
9
(HPO:0009005) Weakness of the intrinsic hand muscles 3 / 7739
10
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
(HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
12
(HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
13
(HPO:0003552) Muscle stiffness 23 / 7739
14
(HPO:0003738) Exercise-induced myalgia 19 / 7739
15
(HPO:0003394) Muscle cramps 106 / 7739
16
(HPO:0009046) Difficulty running 17 / 7739
17
(HPO:0007126) Proximal amyotrophy 29 / 7739
18
(HPO:0003554) Type 2 muscle fiber atrophy 14 / 7739
19
(HPO:0003701) Proximal muscle weakness 105 / 7739
20
(HPO:0003198) Myopathy 151 / 7739
21
(OMIM) Muscle cramps at rest 1 / 7739
22
(OMIM) Tubular aggregates stain for NADH-tetrazolium reductase 1 / 7739
23
(OMIM) Muscle biopsy shows increased fiber size variation 1 / 7739
24
(OMIM) Tubular aggregates are subsarcolemmal or intermyofibrillar 1 / 7739
25
(OMIM) Muscle biopsy shows internal nuclei 1 / 7739
26
(HPO:0003581) Adult onset 117 / 7739
27
(HPO:0003677) Slow progression 134 / 7739
28
(OMIM) Tubular aggregates, mainly in type 2 fibers 1 / 7739
29
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
(OMIM) Muscle biopsy shows fatty infiltration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur ...
Clinical Description OMIM Rohkamm et al. (1983) described a family in which 7 persons in 3 generations had slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness. Creatine kinase was normal, and EMG showed only slight myopathic changes. Neuromuscular transmission ...
Molecular genetics OMIM In affected members from 4 unrelated families with autosomal dominant tubular aggregate myopathy, Bohm et al. (2013) identified 4 different heterozygous mutations in the intraluminal EF hand domains of the STIM1 gene (605921.0004-605921.0007). The initial mutations were identified ...