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Myopathy, congenital, progressive, with scoliosis(MYOSCO; CMYP19)

MedGen UID:
1684769
Concept ID:
C5231417
Disease or Syndrome
Synonym: CONGENITAL MYOPATHY 19
 
Gene (location): PAX7 (1p36.13)
 
Monarch Initiative: MONDO:0032821
OMIM®: 618578

Definition

Congenital myopathy-19 (CMYP19) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Renal atrophy
MedGen UID:
574585
Concept ID:
C0341698
Acquired Abnormality
Atrophy of the kidney.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
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.
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Facial hypotonia
MedGen UID:
336889
Concept ID:
C1845251
Finding
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Bell-shaped thorax
MedGen UID:
351320
Concept ID:
C1865186
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
Infantile axial hypotonia
MedGen UID:
812934
Concept ID:
C3806604
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
Concept ID:
C3806467
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).
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Depressed nasal ridge
MedGen UID:
334631
Concept ID:
C1842876
Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
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).
Gaze-evoked horizontal nystagmus
MedGen UID:
377895
Concept ID:
C1853394
Finding
Horizontal nystagmus made apparent by looking to the right or to the left.

Professional guidelines

PubMed

Daher YH, Lonstein JE, Winter RB, Bradford DS
Spine (Phila Pa 1976) 1985 Sep;10(7):614-7. doi: 10.1097/00007632-198509000-00004. PMID: 4071269

Recent clinical studies

Etiology

Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F
Neurology 2023 Oct 10;101(15):e1495-e1508. Epub 2023 Aug 29 doi: 10.1212/WNL.0000000000207723. PMID: 37643885Free PMC Article
Topaloglu H
Acta Myol 2020 Dec;39(4):266-273. Epub 2020 Dec 1 doi: 10.36185/2532-1900-029. PMID: 33458581Free PMC Article
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485

Diagnosis

Croci C, Traverso M, Baratto S, Iacomino M, Pedemonte M, Caroli F, Scala M, Bruno C, Fiorillo C
Acta Myol 2022;41(3):111-116. Epub 2022 Sep 30 doi: 10.36185/2532-1900-076. PMID: 36349186Free PMC Article
Ganassi M, Muntoni F, Zammit PS
Exp Cell Res 2022 Feb 1;411(1):112906. Epub 2021 Nov 3 doi: 10.1016/j.yexcr.2021.112906. PMID: 34740639Free PMC Article
Topaloglu H
Acta Myol 2020 Dec;39(4):266-273. Epub 2020 Dec 1 doi: 10.36185/2532-1900-029. PMID: 33458581Free PMC Article
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article

Therapy

Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Hasler CC, Mehrkens A, Hefti F
Eur Spine J 2010 Mar;19(3):400-8. Epub 2009 Dec 31 doi: 10.1007/s00586-009-1253-9. PMID: 20041270Free PMC Article
Logghe K, Wit JM, Jennekens F, Pruijs JE
Eur J Pediatr 1990 Nov;150(1):69-71. doi: 10.1007/BF01959486. PMID: 2079082
Cunliffe M, Burrows FA
Can Anaesth Soc J 1985 Sep;32(5):543-7. doi: 10.1007/BF03010806. PMID: 4041956
Bowen JR, Ferrer J
Clin Orthop Relat Res 1983 Nov;(180):179-81. PMID: 6627787

Prognosis

Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F
Neurology 2023 Oct 10;101(15):e1495-e1508. Epub 2023 Aug 29 doi: 10.1212/WNL.0000000000207723. PMID: 37643885Free PMC Article
Croci C, Traverso M, Baratto S, Iacomino M, Pedemonte M, Caroli F, Scala M, Bruno C, Fiorillo C
Acta Myol 2022;41(3):111-116. Epub 2022 Sep 30 doi: 10.36185/2532-1900-076. PMID: 36349186Free PMC Article
Ganassi M, Muntoni F, Zammit PS
Exp Cell Res 2022 Feb 1;411(1):112906. Epub 2021 Nov 3 doi: 10.1016/j.yexcr.2021.112906. PMID: 34740639Free PMC Article
Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG
Neuromuscul Disord 2014 Feb;24(2):117-24. Epub 2013 Oct 23 doi: 10.1016/j.nmd.2013.10.002. PMID: 24239060
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article

Clinical prediction guides

Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F
Neurology 2023 Oct 10;101(15):e1495-e1508. Epub 2023 Aug 29 doi: 10.1212/WNL.0000000000207723. PMID: 37643885Free PMC Article
Croci C, Traverso M, Baratto S, Iacomino M, Pedemonte M, Caroli F, Scala M, Bruno C, Fiorillo C
Acta Myol 2022;41(3):111-116. Epub 2022 Sep 30 doi: 10.36185/2532-1900-076. PMID: 36349186Free PMC Article
Ganassi M, Muntoni F, Zammit PS
Exp Cell Res 2022 Feb 1;411(1):112906. Epub 2021 Nov 3 doi: 10.1016/j.yexcr.2021.112906. PMID: 34740639Free PMC Article
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article

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