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Myopathy, early-onset, with fatal cardiomyopathy(SALMY)

MedGen UID:
435983
Concept ID:
C2673677
Disease or Syndrome
Synonyms: Salih Myopathy; SALMY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Salih congenital muscular dystrophy (702343002); Salih myopathy (702343002); Early onset myopathy with fatal cardiomyopathy (702343002)
 
Gene (location): TTN (2q31.2)
OMIM®: 611705
Orphanet: ORPHA289377

Disease characteristics

Excerpted from the GeneReview: Salih Myopathy
Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances. [from GeneReviews]
Authors:
Peter Hackman  |  Marco Savarese  |  Virginie Carmignac, et. al.   view full author information

Additional description

From GHR
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.A form of heart disease called dilated cardiomyopathy is another feature of EOMFC. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. The heart abnormalities associated with EOMFC usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.  https://ghr.nlm.nih.gov/condition/early-onset-myopathy-with-fatal-cardiomyopathy

Clinical features

Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.It usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Muscular Diseases
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Generalized muscle weakness
MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
A reduction in the strength of muscles in multiple anatomic sites.
Arrhythmia
MedGen UID:
167788
Concept ID:
C0855329
Finding
An electrocardiographic finding of a change in cardiac electrical activity.
Centrally nucleated skeletal muscle fibers
MedGen UID:
330782
Concept ID:
C1842170
Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Calf muscle hypertrophy
MedGen UID:
335868
Concept ID:
C1843057
Finding
Muscle hypertrophy affecting the calf muscles.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Facial palsy
MedGen UID:
346972
Concept ID:
C1858719
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyopathy, early-onset, with fatal cardiomyopathy
Follow this link to review classifications for Myopathy, early-onset, with fatal cardiomyopathy in Orphanet.

Recent clinical studies

Etiology

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM
Mol Genet Metab 2018 Jan;123(1):28-42. Epub 2017 Nov 15 doi: 10.1016/j.ymgme.2017.11.003. PMID: 29331171Free PMC Article
Ojala T, Nupponen I, Saloranta C, Sarkola T, Sekar P, Breilin A, Tyni T
Eur J Pediatr 2015 Dec;174(12):1689-92. Epub 2015 Jun 13 doi: 10.1007/s00431-015-2574-9. PMID: 26070998
Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S
Muscle Nerve 1992 Apr;15(4):455-8. doi: 10.1002/mus.880150406. PMID: 1533013

Diagnosis

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM
Mol Genet Metab 2018 Jan;123(1):28-42. Epub 2017 Nov 15 doi: 10.1016/j.ymgme.2017.11.003. PMID: 29331171Free PMC Article
Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE
Mol Genet Metab 2017 Nov;122(3):76-84. Epub 2017 Jul 8 doi: 10.1016/j.ymgme.2017.06.015. PMID: 28711408
Ojala T, Nupponen I, Saloranta C, Sarkola T, Sekar P, Breilin A, Tyni T
Eur J Pediatr 2015 Dec;174(12):1689-92. Epub 2015 Jun 13 doi: 10.1007/s00431-015-2574-9. PMID: 26070998

Prognosis

Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE
Mol Genet Metab 2017 Nov;122(3):76-84. Epub 2017 Jul 8 doi: 10.1016/j.ymgme.2017.06.015. PMID: 28711408
Petillo R, D'Ambrosio P, Torella A, Taglia A, Picillo E, Testori A, Ergoli M, Nigro G, Piluso G, Nigro V, Politano L
Acta Myol 2015 Dec;34(2-3):116-9. PMID: 27199538Free PMC Article
Ojala T, Nupponen I, Saloranta C, Sarkola T, Sekar P, Breilin A, Tyni T
Eur J Pediatr 2015 Dec;174(12):1689-92. Epub 2015 Jun 13 doi: 10.1007/s00431-015-2574-9. PMID: 26070998
Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H, Flanigan KM, Moore SA
J Hum Genet 2015 Mar;60(3):151-5. Epub 2014 Dec 24 doi: 10.1038/jhg.2014.112. PMID: 25537791Free PMC Article
Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P
Neurology 2001 Oct 23;57(8):1440-6. PMID: 11673586

Clinical prediction guides

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM
Mol Genet Metab 2018 Jan;123(1):28-42. Epub 2017 Nov 15 doi: 10.1016/j.ymgme.2017.11.003. PMID: 29331171Free PMC Article
Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE
Mol Genet Metab 2017 Nov;122(3):76-84. Epub 2017 Jul 8 doi: 10.1016/j.ymgme.2017.06.015. PMID: 28711408
Petillo R, D'Ambrosio P, Torella A, Taglia A, Picillo E, Testori A, Ergoli M, Nigro G, Piluso G, Nigro V, Politano L
Acta Myol 2015 Dec;34(2-3):116-9. PMID: 27199538Free PMC Article
Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H, Flanigan KM, Moore SA
J Hum Genet 2015 Mar;60(3):151-5. Epub 2014 Dec 24 doi: 10.1038/jhg.2014.112. PMID: 25537791Free PMC Article
Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P
Neurology 2001 Oct 23;57(8):1440-6. PMID: 11673586

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