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Myopathy, proximal, and ophthalmoplegia(CMYP6)

MedGen UID:
381340
Concept ID:
C1854106
Disease or Syndrome
Synonyms: CMYP6; CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA; Inclusion body myopathy 3; INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; Inclusion body myopathy autosomal dominant; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
 
Gene (location): MYH2 (17p13.1)
 
Monarch Initiative: MONDO:0011577
OMIM®: 605637

Definition

Congenital myopathy-6 with ophthalmoplegia (CMYP6) is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. CMYP6 can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

Clinical features

From HPO
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Neck muscle weakness
MedGen UID:
66808
Concept ID:
C0240479
Finding
Decreased strength of the neck musculature.
Congenital contracture
MedGen UID:
83066
Concept ID:
C0332878
Congenital Abnormality
One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
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.
Increased variability in muscle fiber diameter
MedGen UID:
336019
Concept ID:
C1843700
Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Type 1 muscle fiber predominance
MedGen UID:
344274
Concept ID:
C1854387
Finding
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Muscle fiber inclusion bodies
MedGen UID:
867769
Concept ID:
C4022159
Finding
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Myopathic facies
MedGen UID:
90695
Concept ID:
C0332615
Finding
A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.

Recent clinical studies

Etiology

Topaloglu H
Acta Myol 2020 Dec;39(4):266-273. Epub 2020 Dec 1 doi: 10.36185/2532-1900-029. PMID: 33458581Free PMC Article
Rossi-Espagnet MC, Lucignani M, Pasquini L, Napolitano A, Pro S, Romano A, Diodato D, Martinelli D, Longo D
Neuroradiology 2020 Feb;62(2):241-249. Epub 2019 Nov 4 doi: 10.1007/s00234-019-02302-0. PMID: 31680196
Emma F, Bertini E, Salviati L, Montini G
Pediatr Nephrol 2012 Apr;27(4):539-50. Epub 2011 Jun 9 doi: 10.1007/s00467-011-1926-6. PMID: 21656172Free PMC Article
Oldfors A
Neuromuscul Disord 2007 May;17(5):355-67. Epub 2007 Apr 16 doi: 10.1016/j.nmd.2007.02.008. PMID: 17434305
Harding AE, Holt IJ
Br Med Bull 1989 Jul;45(3):760-71. doi: 10.1093/oxfordjournals.bmb.a072356. PMID: 2688827

Diagnosis

Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C, Ji K
J Neurol 2024 Feb;271(2):864-876. Epub 2023 Oct 17 doi: 10.1007/s00415-023-12005-5. PMID: 37847292
Topaloglu H
Acta Myol 2020 Dec;39(4):266-273. Epub 2020 Dec 1 doi: 10.36185/2532-1900-029. PMID: 33458581Free PMC Article
Garibaldi M, Calabrò F, Merlonghi G, Pugliese S, Ceccanti M, Cristiano L, Tartaglione T, Petrucci A
Neuromuscul Disord 2020 May;30(5):420-423. Epub 2020 Feb 26 doi: 10.1016/j.nmd.2020.02.013. PMID: 32387281
Galimberti V, Tironi R, Lerario A, Scali M, Del Bo R, Rodolico C, Brizzi T, Gibertini S, Maggi L, Mora M, Toscano A, Comi GP, Sciacco M, Moggio M, Peverelli L
Eur J Neurol 2020 Apr;27(4):709-715. Epub 2019 Dec 15 doi: 10.1111/ene.14131. PMID: 31769567
Emma F, Bertini E, Salviati L, Montini G
Pediatr Nephrol 2012 Apr;27(4):539-50. Epub 2011 Jun 9 doi: 10.1007/s00467-011-1926-6. PMID: 21656172Free PMC Article

Therapy

Bermejo-Guerrero L, Hernández-Voth A, Serrano-Lorenzo P, Blázquez A, Martin-Jimenez P, Martin MA, Domínguez-González C
Mitochondrion 2024 May;76:101879. Epub 2024 Apr 9 doi: 10.1016/j.mito.2024.101879. PMID: 38599303
Garibaldi M, Calabrò F, Merlonghi G, Pugliese S, Ceccanti M, Cristiano L, Tartaglione T, Petrucci A
Neuromuscul Disord 2020 May;30(5):420-423. Epub 2020 Feb 26 doi: 10.1016/j.nmd.2020.02.013. PMID: 32387281
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D, Witherspoon JW, Wistow G, Meilleur KG
J Neurol 2018 Nov;265(11):2506-2524. Epub 2018 Aug 28 doi: 10.1007/s00415-018-9033-2. PMID: 30155738Free PMC Article
Chen T, Pu C, Shi Q, Wang Q, Cong L, Liu J, Luo H, Fei L, Tang W, Yu S
Int J Clin Exp Pathol 2014;7(12):8887-92. Epub 2014 Dec 1 PMID: 25674260Free PMC Article
Wadia RS, Sadagopan C, Amin RB, Sardesai HV
J Neurol Neurosurg Psychiatry 1974 Jul;37(7):841-7. doi: 10.1136/jnnp.37.7.841. PMID: 4853328Free PMC Article

Prognosis

Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C, Ji K
J Neurol 2024 Feb;271(2):864-876. Epub 2023 Oct 17 doi: 10.1007/s00415-023-12005-5. PMID: 37847292
Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A
BMC Neurol 2022 Nov 15;22(1):428. doi: 10.1186/s12883-022-02935-4. PMID: 36380287Free PMC Article
Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ, Windebank AJ, Mer G, Milone M
Acta Neuropathol Commun 2021 Apr 29;9(1):79. doi: 10.1186/s40478-021-01168-9. PMID: 33926564Free PMC Article
Willis T, Hedberg-Oldfors C, Alhaswani Z, Kulshrestha R, Sewry C, Oldfors A
J Neurol 2016 Jul;263(7):1427-33. Epub 2016 May 13 doi: 10.1007/s00415-016-8154-8. PMID: 27177998
Kiyomoto BH, Tengan CH, Costa CK, Oliveira AS, Schmidt B, Gabbai AA
J Neurol Neurosurg Psychiatry 2006 Apr;77(4):541-3. doi: 10.1136/jnnp.2005.079954. PMID: 16543540Free PMC Article

Clinical prediction guides

Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C, Ji K
J Neurol 2024 Feb;271(2):864-876. Epub 2023 Oct 17 doi: 10.1007/s00415-023-12005-5. PMID: 37847292
Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A
BMC Neurol 2022 Nov 15;22(1):428. doi: 10.1186/s12883-022-02935-4. PMID: 36380287Free PMC Article
Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ, Windebank AJ, Mer G, Milone M
Acta Neuropathol Commun 2021 Apr 29;9(1):79. doi: 10.1186/s40478-021-01168-9. PMID: 33926564Free PMC Article
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H
Ann Neurol 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119. PMID: 20839240
Harding AE, Holt IJ
Br Med Bull 1989 Jul;45(3):760-71. doi: 10.1093/oxfordjournals.bmb.a072356. PMID: 2688827

Recent systematic reviews

Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ
Orphanet J Rare Dis 2020 May 7;15(1):113. doi: 10.1186/s13023-020-01384-x. PMID: 32381029Free PMC Article

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