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Myopathy, tubular aggregate, 2(TAM2)

MedGen UID:
862994
•Concept ID:
C4014557
•
Disease or Syndrome
Synonym: TAM2
 
Gene (location): ORAI1 (12q24.31)
 
Monarch Initiative: MONDO:0014383
OMIM®: 615883

Definition

Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. [from MONDO]

Clinical features

From HPO
Ankle flexion contracture
MedGen UID:
332440
•Concept ID:
C1837407
•
Anatomical Abnormality
See: Feature record | Search on this feature
Areflexia of lower limbs
MedGen UID:
347285
•Concept ID:
C1856694
•
Finding
Inability to elicit tendon reflexes in the lower limbs.
See: Feature record | Search on this feature
Foot dorsiflexor weakness
MedGen UID:
356163
•Concept ID:
C1866141
•
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
See: Feature record | Search on this feature
Falls
MedGen UID:
39084
•Concept ID:
C0085639
•
Finding
A sudden movement downward, usually resulting in injury.
See: Feature record | Search on this feature
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
See: Feature record | Search on this feature
Proximal muscle weakness
MedGen UID:
113169
•Concept ID:
C0221629
•
Finding
A lack of strength of the proximal muscles.
See: Feature record | Search on this feature
Neck muscle weakness
MedGen UID:
66808
•Concept ID:
C0240479
•
Finding
Decreased strength of the neck musculature.
See: Feature record | Search on this feature
Generalized muscle weakness
MedGen UID:
155433
•Concept ID:
C0746674
•
Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
See: Feature record | Search on this feature
Spinal rigidity
MedGen UID:
346721
•Concept ID:
C1858025
•
Finding
Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
See: Feature record | Search on this feature
Hypocalcemia
MedGen UID:
5705
•Concept ID:
C0020598
•
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
Miosis
MedGen UID:
6409
•Concept ID:
C0026205
•
Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R, Cowling BS, Laporte J
Int J Mol Sci 2021 Oct 21;22(21) doi: 10.3390/ijms222111377. PMID: 34768808Free PMC Article
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844
Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes.
Naddaf E, Milone M, Kansagra A, Buadi F, Kourelis T
Neurology 2019 Jul 16;93(3):e298-e305. Epub 2019 Jun 5 doi: 10.1212/WNL.0000000000007777. PMID: 31167932

Recent clinical studies

Etiology

Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ
Continuum (Minneap Minn) 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. PMID: 31794464
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Protein aggregate myopathies.
Sharma MC, Goebel HH
Neurol India 2005 Sep;53(3):273-9. doi: 10.4103/0028-3886.16921. PMID: 16230791
Congenital myopathies.
Goebel HH
Semin Pediatr Neurol 1996 Jun;3(2):152-61. doi: 10.1016/s1071-9091(96)80043-x. PMID: 8795848

Diagnosis

Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ
Continuum (Minneap Minn) 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. PMID: 31794464
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P
Hum Mutat 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356. PMID: 16917943
Congenital myopathies.
Goebel HH
Semin Pediatr Neurol 1996 Jun;3(2):152-61. doi: 10.1016/s1071-9091(96)80043-x. PMID: 8795848

Therapy

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S
Lancet Neurol 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. PMID: 37977713
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J
Brain 2023 Oct 3;146(10):4158-4173. doi: 10.1093/brain/awad251. PMID: 37490306Free PMC Article
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Middelink M, Voermans NC, van Engelen BGM, Janssen MCH, Groothuis JT, Knuijt S, Zweers-van Essen H
J Neuromuscul Dis 2023;10(5):777-785. doi: 10.3233/JND-230014. PMID: 37483025Free PMC Article
Inspiratory Muscle Training in Nemaline Myopathy.
van Kleef ESB, Langer D, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J
J Neuromuscul Dis 2023;10(5):825-834. doi: 10.3233/JND-221665. PMID: 37458044Free PMC Article
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article

Prognosis

Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies
Ital J Pediatr 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. PMID: 29141652Free PMC Article
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J
Orphanet J Rare Dis 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. PMID: 18817572Free PMC Article
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Central core disease.
Jungbluth H
Orphanet J Rare Dis 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25. PMID: 17504518Free PMC Article

Clinical prediction guides

Skeletal Muscle Disorders: A Noncardiac Source of Cardiac Troponin T.
du Fay de Lavallaz J, Prepoudis A, Wendebourg MJ, Kesenheimer E, Kyburz D, Daikeler T, Haaf P, Wanschitz J, Löscher WN, Schreiner B, Katan M, Jung HH, Maurer B, Hammerer-Lercher A, Mayr A, Gualandro DM, Acket A, Puelacher C, Boeddinghaus J, Nestelberger T, Lopez-Ayala P, Glarner N, Shrestha S, Manka R, Gawinecka J, Piscuoglio S, Gallon J, Wiedemann S, Sinnreich M, Mueller C; BASEL XII Investigators
Circulation 2022 Jun 14;145(24):1764-1779. Epub 2022 Apr 7 doi: 10.1161/CIRCULATIONAHA.121.058489. PMID: 35389756Free PMC Article
A Cross-Sectional Study of Nemaline Myopathy.
Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ
Neurology 2021 Mar 9;96(10):e1425-e1436. Epub 2021 Jan 4 doi: 10.1212/WNL.0000000000011458. PMID: 33397769Free PMC Article
Pregnancy and Delivery in Women With Congenital Myopathies.
Rudnik-Schöneborn S, Wallgren-Pettersson C
Semin Pediatr Neurol 2019 Apr;29:23-29. Epub 2019 Jan 16 doi: 10.1016/j.spen.2019.01.006. PMID: 31060722
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS, Feske S
Ann N Y Acad Sci 2015 Nov;1356(1):45-79. Epub 2015 Oct 15 doi: 10.1111/nyas.12938. PMID: 26469693Free PMC Article
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB
Neurology 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. PMID: 15136669

Recent systematic reviews

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Buchignani B, Marinella G, Pasquariello R, Sgherri G, Frosini S, Santorelli FM, Orsini A, Battini R, Astrea G
Genes (Basel) 2024 Feb 5;15(2) doi: 10.3390/genes15020208. PMID: 38397198Free PMC Article
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Middelink M, Voermans NC, van Engelen BGM, Janssen MCH, Groothuis JT, Knuijt S, Zweers-van Essen H
J Neuromuscul Dis 2023;10(5):777-785. doi: 10.3233/JND-230014. PMID: 37483025Free PMC Article

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