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Sternocleidomastoid amyotrophy

MedGen UID:
868665
Concept ID:
C4023067
Disease or Syndrome
HPO: HP:0012036

Definition

Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSternocleidomastoid amyotrophy

Conditions with this feature

Nemaline myopathy 2
MedGen UID:
342534
Concept ID:
C1850569
Disease or Syndrome
Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). Genetic Heterogeneity of Nemaline Myopathy See also NEM1 (255310), caused by mutation in the tropomyosin-3 gene (TPM3; 191030) on chromosome 1q22; NEM3 (161800), caused by mutation in the alpha-actin-1 gene (ACTA1; 102610) on chromosome 1q42; NEM4 (609285), caused by mutation in the beta-tropomyosin gene (TPM2; 190990) on chromosome 9p13; NEM5A (605355), also known as Amish nemaline myopathy, NEM5B (620386), and NEM5C (620389), all caused by mutation in the troponin T1 gene (TNNT1; 191041) on chromosome 19q13; NEM6 (609273), caused by mutation in the KBTBD13 gene (613727) on chromosome 15q22; NEM7 (610687), caused by mutation in the cofilin-2 gene (CFL2; 601443) on chromosome 14q13; NEM8 (615348), caused by mutation in the KLHL40 gene (615340), on chromosome 3p22; NEM9 (615731), caused by mutation in the KLHL41 gene (607701) on chromosome 2q31; NEM10 (616165), caused by mutation in the LMOD3 gene (616112) on chromosome 3p14; and NEM11 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).
Congenital muscular dystrophy 1B
MedGen UID:
346746
Concept ID:
C1858118
Disease or Syndrome
A rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.
Myotonic dystrophy type 2
MedGen UID:
419137
Concept ID:
C2931689
Disease or Syndrome
Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third to fourth decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and proximal and axial weakness of the neck flexors and the hip flexors. Subsequently, weakness occurs in the elbow extensors and finger flexors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms. In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable.

Professional guidelines

PubMed

Zhao Z, Deng H, Li Y, Wang X, Tang G, Zeng Y, Xu H, Yang Q, Wu Z, Li S, Cui Z, Feng G, Fu G, Tang S, Xiong Z, Qiu X; Futang Research Center of Pediatric Development(FRCPD)
BMC Musculoskelet Disord 2023 Nov 18;24(1):901. doi: 10.1186/s12891-023-06983-w. PMID: 37980469Free PMC Article

Recent clinical studies

Etiology

Zhao Z, Deng H, Li Y, Wang X, Tang G, Zeng Y, Xu H, Yang Q, Wu Z, Li S, Cui Z, Feng G, Fu G, Tang S, Xiong Z, Qiu X; Futang Research Center of Pediatric Development(FRCPD)
BMC Musculoskelet Disord 2023 Nov 18;24(1):901. doi: 10.1186/s12891-023-06983-w. PMID: 37980469Free PMC Article
Uthaikhup S, Assapun J, Kothan S, Watcharasaksilp K, Elliott JM
Musculoskelet Sci Pract 2017 Jun;29:1-6. Epub 2017 Feb 22 doi: 10.1016/j.msksp.2017.02.002. PMID: 28259769
Tumturk A, Kaya Ozcora G, Kacar Bayram A, Kabaklioglu M, Doganay S, Canpolat M, Gumus H, Kumandas S, Unal E, Kurtsoy A, Per H
Childs Nerv Syst 2015 Sep;31(9):1461-70. Epub 2015 Jun 5 doi: 10.1007/s00381-015-2764-9. PMID: 26043711
Chen HX, Tang SP, Gao FT, Xu JL, Jiang XP, Cao J, Fu GB, Sun K, Liu SZ, Shi W
Medicine (Baltimore) 2014 Nov;93(23):e138. doi: 10.1097/MD.0000000000000138. PMID: 25415668Free PMC Article
Belavý DL, Miokovic T, Armbrecht G, Felsenberg D
J Appl Physiol (1985) 2013 Sep 1;115(5):586-96. Epub 2013 Jun 27 doi: 10.1152/japplphysiol.00376.2013. PMID: 23813530

Diagnosis

Zhao Z, Deng H, Li Y, Wang X, Tang G, Zeng Y, Xu H, Yang Q, Wu Z, Li S, Cui Z, Feng G, Fu G, Tang S, Xiong Z, Qiu X; Futang Research Center of Pediatric Development(FRCPD)
BMC Musculoskelet Disord 2023 Nov 18;24(1):901. doi: 10.1186/s12891-023-06983-w. PMID: 37980469Free PMC Article
Pinter ZW, Wagner S, Fredericks D Jr, Xiong A, Helgeson M, Currier B, Freedman BA, Kepler C, Elder BD, Bydon M, Nassr A, Sebastian AS
Clin Orthop Relat Res 2021 Apr 1;479(4):726-732. doi: 10.1097/CORR.0000000000001621. PMID: 33416225Free PMC Article
Tumturk A, Kaya Ozcora G, Kacar Bayram A, Kabaklioglu M, Doganay S, Canpolat M, Gumus H, Kumandas S, Unal E, Kurtsoy A, Per H
Childs Nerv Syst 2015 Sep;31(9):1461-70. Epub 2015 Jun 5 doi: 10.1007/s00381-015-2764-9. PMID: 26043711
Sonoo M, Kuwabara S, Shimizu T, Komori T, Hirashima F, Inaba A, Hatanaka Y, Misawa S, Kugio Y; Tokyo Metropolitan Neuromuscular Electrodiagnosis Study Group
Muscle Nerve 2009 Jan;39(1):63-70. doi: 10.1002/mus.21196. PMID: 19086078
Pinto S, de Carvalho M
Muscle Nerve 2008 Oct;38(4):1312-7. doi: 10.1002/mus.21109. PMID: 18785186

Therapy

Jiang B, Zu W, Xu J, Xiong Z, Zhang Y, Gao S, Ge S, Zhang L
Int J Biol Macromol 2018 Jun;112:1014-1020. Epub 2018 Feb 13 doi: 10.1016/j.ijbiomac.2018.02.077. PMID: 29447964
Gómez-Andrés D, Dabaj I, Mompoint D, Hankiewicz K, Azzi V, Ioos C, Romero NB, Ben Yaou R, Bergounioux J, Bonne G, Richard P, Estournet B, Yves-Carlier R, Quijano-Roy S
Muscle Nerve 2016 Aug;54(2):192-202. Epub 2016 Feb 22 doi: 10.1002/mus.25018. PMID: 26670690
Zhang LL, Wang XJ, Zhou GQ, Tang LL, Lin AH, Ma J, Sun Y
Sci Rep 2015 Dec 18;5:18415. doi: 10.1038/srep18415. PMID: 26678599Free PMC Article
Zhang LL, Mao YP, Zhou GQ, Tang LL, Qi ZY, Lin L, Yao JJ, Ma J, Lin AH, Sun Y
Medicine (Baltimore) 2015 Aug;94(31):e1294. doi: 10.1097/MD.0000000000001294. PMID: 26252307Free PMC Article
Belavý DL, Miokovic T, Armbrecht G, Felsenberg D
J Appl Physiol (1985) 2013 Sep 1;115(5):586-96. Epub 2013 Jun 27 doi: 10.1152/japplphysiol.00376.2013. PMID: 23813530

Prognosis

Zhao Z, Deng H, Li Y, Wang X, Tang G, Zeng Y, Xu H, Yang Q, Wu Z, Li S, Cui Z, Feng G, Fu G, Tang S, Xiong Z, Qiu X; Futang Research Center of Pediatric Development(FRCPD)
BMC Musculoskelet Disord 2023 Nov 18;24(1):901. doi: 10.1186/s12891-023-06983-w. PMID: 37980469Free PMC Article
Pinter ZW, Wagner S, Fredericks D Jr, Xiong A, Helgeson M, Currier B, Freedman BA, Kepler C, Elder BD, Bydon M, Nassr A, Sebastian AS
Clin Orthop Relat Res 2021 Apr 1;479(4):726-732. doi: 10.1097/CORR.0000000000001621. PMID: 33416225Free PMC Article
Swartz JE, Pothen AJ, Wegner I, Smid EJ, Swart KM, de Bree R, Leenen LP, Grolman W
Oral Oncol 2016 Nov;62:28-33. Epub 2016 Oct 3 doi: 10.1016/j.oraloncology.2016.09.006. PMID: 27865369
Sonoo M, Kuwabara S, Shimizu T, Komori T, Hirashima F, Inaba A, Hatanaka Y, Misawa S, Kugio Y; Tokyo Metropolitan Neuromuscular Electrodiagnosis Study Group
Muscle Nerve 2009 Jan;39(1):63-70. doi: 10.1002/mus.21196. PMID: 19086078
Pinto S, de Carvalho M
Muscle Nerve 2008 Oct;38(4):1312-7. doi: 10.1002/mus.21109. PMID: 18785186

Clinical prediction guides

Zhao Z, Deng H, Li Y, Wang X, Tang G, Zeng Y, Xu H, Yang Q, Wu Z, Li S, Cui Z, Feng G, Fu G, Tang S, Xiong Z, Qiu X; Futang Research Center of Pediatric Development(FRCPD)
BMC Musculoskelet Disord 2023 Nov 18;24(1):901. doi: 10.1186/s12891-023-06983-w. PMID: 37980469Free PMC Article
Pinter ZW, Wagner S, Fredericks D Jr, Xiong A, Helgeson M, Currier B, Freedman BA, Kepler C, Elder BD, Bydon M, Nassr A, Sebastian AS
Clin Orthop Relat Res 2021 Apr 1;479(4):726-732. doi: 10.1097/CORR.0000000000001621. PMID: 33416225Free PMC Article
Jiang B, Zu W, Xu J, Xiong Z, Zhang Y, Gao S, Ge S, Zhang L
Int J Biol Macromol 2018 Jun;112:1014-1020. Epub 2018 Feb 13 doi: 10.1016/j.ijbiomac.2018.02.077. PMID: 29447964
Uthaikhup S, Assapun J, Kothan S, Watcharasaksilp K, Elliott JM
Musculoskelet Sci Pract 2017 Jun;29:1-6. Epub 2017 Feb 22 doi: 10.1016/j.msksp.2017.02.002. PMID: 28259769
Pinto S, de Carvalho M
Muscle Nerve 2008 Oct;38(4):1312-7. doi: 10.1002/mus.21109. PMID: 18785186

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