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Muscular Dystrophy Secondary to Mitochondrial Disorder

MedGen UID:
1715069
•Concept ID:
C5238795
•
Disease or Syndrome

Definition

A muscular dystrophy that was caused by a primary mitochondrial disorder. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscular Dystrophy Secondary to Mitochondrial Disorder

Recent clinical studies

Etiology

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators
Neurology 2023 Jul 18;101(3):e238-e252. Epub 2023 Jun 2 doi: 10.1212/WNL.0000000000207402. PMID: 37268435Free PMC Article
Interventions for promoting physical activity in people with neuromuscular disease.
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G
Cochrane Database Syst Rev 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. PMID: 34027632Free PMC Article
Self-management program improves participation in patients with neuromuscular disease: A randomized controlled trial.
Veenhuizen Y, Cup EHC, Jonker MA, Voet NBM, van Keulen BJ, Maas DM, Heeren A, Groothuis JT, van Engelen BGM, Geurts ACH
Neurology 2019 Oct 29;93(18):e1720-e1731. Epub 2019 Sep 30 doi: 10.1212/WNL.0000000000008393. PMID: 31570565
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. PMID: 23835682
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts ACh
Cochrane Database Syst Rev 2010 Jan 20;(1):CD003907. doi: 10.1002/14651858.CD003907.pub3. PMID: 20091552

Diagnosis

Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.
Keene KR, Notting IC, Verschuuren JJGM, Voermans N, de Keizer ROB, Beenakker JM, Tannemaat MR, Kan HE
J Neuromuscul Dis 2023;10(5):869-883. doi: 10.3233/JND-230023. PMID: 37182896Free PMC Article
A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Muthuhetti Gamage S, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG
PLoS One 2022;17(11):e0269649. Epub 2022 Nov 21 doi: 10.1371/journal.pone.0269649. PMID: 36410013Free PMC Article
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium, Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H
Brain 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. PMID: 33559681Free PMC Article
Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.
Yadak R, Breur M, Bugiani M
Orphanet J Rare Dis 2019 Feb 8;14(1):33. doi: 10.1186/s13023-019-1016-6. PMID: 30736844Free PMC Article
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. PMID: 23835682

Therapy

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators
Neurology 2023 Jul 18;101(3):e238-e252. Epub 2023 Jun 2 doi: 10.1212/WNL.0000000000207402. PMID: 37268435Free PMC Article
A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Muthuhetti Gamage S, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG
PLoS One 2022;17(11):e0269649. Epub 2022 Nov 21 doi: 10.1371/journal.pone.0269649. PMID: 36410013Free PMC Article
Interventions for promoting physical activity in people with neuromuscular disease.
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G
Cochrane Database Syst Rev 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. PMID: 34027632Free PMC Article
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. PMID: 23835682
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts ACh
Cochrane Database Syst Rev 2010 Jan 20;(1):CD003907. doi: 10.1002/14651858.CD003907.pub3. PMID: 20091552

Prognosis

Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis.
Zaidman I, Elhasid R, Gefen A, Yahav Dovrat A, Mutaz S, Shaoul R, Eshach Adiv O, Mandel H, Tal G
Pediatr Blood Cancer 2021 May;68(5):e28926. Epub 2021 Feb 3 doi: 10.1002/pbc.28926. PMID: 33533561
A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.
Wang HF, Wang J, Wang YL, Fan JJ, Mo GL, Gong FY, Chai ZM, Zhang J, Meng HX, Li CX, Guo JH, Pu CQ
Acta Neurol Belg 2017 Mar;117(1):259-267. Epub 2016 Oct 5 doi: 10.1007/s13760-016-0701-7. PMID: 27709505

Clinical prediction guides

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators
Neurology 2023 Jul 18;101(3):e238-e252. Epub 2023 Jun 2 doi: 10.1212/WNL.0000000000207402. PMID: 37268435Free PMC Article
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.
Keene KR, Notting IC, Verschuuren JJGM, Voermans N, de Keizer ROB, Beenakker JM, Tannemaat MR, Kan HE
J Neuromuscul Dis 2023;10(5):869-883. doi: 10.3233/JND-230023. PMID: 37182896Free PMC Article
A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Muthuhetti Gamage S, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG
PLoS One 2022;17(11):e0269649. Epub 2022 Nov 21 doi: 10.1371/journal.pone.0269649. PMID: 36410013Free PMC Article
Interventions for promoting physical activity in people with neuromuscular disease.
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G
Cochrane Database Syst Rev 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. PMID: 34027632Free PMC Article
The 'mitochondrial contact site and cristae organising system' (MICOS) in health and human disease.
Eramo MJ, Lisnyak V, Formosa LE, Ryan MT
J Biochem 2020 Mar 1;167(3):243-255. doi: 10.1093/jb/mvz111. PMID: 31825482

Recent systematic reviews

Interventions for promoting physical activity in people with neuromuscular disease.
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G
Cochrane Database Syst Rev 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. PMID: 34027632Free PMC Article
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. PMID: 23835682
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts ACh
Cochrane Database Syst Rev 2010 Jan 20;(1):CD003907. doi: 10.1002/14651858.CD003907.pub3. PMID: 20091552

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