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Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

MedGen UID:
1665387
•Concept ID:
C4751007
•
Disease or Syndrome
Synonyms: Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome; muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
SNOMED CT: Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (773584001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017932
Orphanet: ORPHA324416

Definition

A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscular hypertrophy-hepatomegaly-polyhydramnios syndrome

Professional guidelines

PubMed

Epilepsy and cannabidiol: a guide to treatment.
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators
Epileptic Disord 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. PMID: 32096470
Muscle Weakness in Adults: Evaluation and Differential Diagnosis.
Larson ST, Wilbur J
Am Fam Physician 2020 Jan 15;101(2):95-108. PMID: 31939642
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525

Recent clinical studies

Etiology

Ophthalmological Manifestations of Hereditary Myopathies.
Saint-Gerons M, Rubio MA, Aznar G, Matheu A
J Binocul Vis Ocul Motil 2022 Jan-Mar;72(1):4-17. Epub 2022 Jan 20 PMID: 35049410
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH
Mol Genet Metab 2020 Sep-Oct;131(1-2):23-37. Epub 2020 Oct 6 doi: 10.1016/j.ymgme.2020.10.001. PMID: 33093005
Fibromyalgia syndrome and temporomandibular disorders with muscular pain. A review.
Moreno-Fernández AM, Jiménez-Castellanos E, Iglesias-Linares A, Bueso-Madrid D, Fernández-Rodríguez A, de Miguel M
Mod Rheumatol 2017 Mar;27(2):210-216. Epub 2017 Feb 1 doi: 10.1080/14397595.2016.1221788. PMID: 27539739
Autoimmune Myopathies.
Mammen AL
Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1852-1870. doi: 10.1212/01.CON.0000511070.50715.ab. PMID: 27922497Free PMC Article
Rhabdomyolysis: a review of the literature.
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484

Diagnosis

Differentiating lower motor neuron syndromes.
Garg N, Park SB, Vucic S, Yiannikas C, Spies J, Howells J, Huynh W, Matamala JM, Krishnan AV, Pollard JD, Cornblath DR, Reilly MM, Kiernan MC
J Neurol Neurosurg Psychiatry 2017 Jun;88(6):474-483. Epub 2016 Dec 21 doi: 10.1136/jnnp-2016-313526. PMID: 28003344Free PMC Article
Inherited ichthyosis: Syndromic forms.
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Pisa Syndrome.
Michel SF, Arias Carrión O, Correa TE, Alejandro PL, Micheli F
Clin Neuropharmacol 2015 Jul-Aug;38(4):135-40. doi: 10.1097/WNF.0000000000000092. PMID: 26166239
Sternohyoid muscle syndrome.
Kim JS, Hong KH, Hong YT, Han BH
Am J Otolaryngol 2015 Mar-Apr;36(2):190-4. Epub 2014 Oct 22 doi: 10.1016/j.amjoto.2014.10.028. PMID: 25484367
Rhabdomyolysis: a review of the literature.
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484

Therapy

Proctalgia Syndromes: Update in Diagnosis and Management.
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Use of Botulinum Toxin in Orofacial Clinical Practice.
Serrera-Figallo MA, Ruiz-de-León-Hernández G, Torres-Lagares D, Castro-Araya A, Torres-Ferrerosa O, Hernández-Pacheco E, Gutierrez-Perez JL
Toxins (Basel) 2020 Feb 11;12(2) doi: 10.3390/toxins12020112. PMID: 32053883Free PMC Article
Electrotherapy modalities for rotator cuff disease.
Page MJ, Green S, Mrocki MA, Surace SJ, Deitch J, McBain B, Lyttle N, Buchbinder R
Cochrane Database Syst Rev 2016 Jun 10;2016(6):CD012225. doi: 10.1002/14651858.CD012225. PMID: 27283591Free PMC Article
Post-polio syndrome and rehabilitation.
Tiffreau V, Rapin A, Serafi R, Percebois-Macadré L, Supper C, Jolly D, Boyer FC
Ann Phys Rehabil Med 2010 Feb;53(1):42-50. Epub 2009 Dec 30 doi: 10.1016/j.rehab.2009.11.007. PMID: 20044320
Piriformis syndrome, diagnosis and treatment.
Kirschner JS, Foye PM, Cole JL
Muscle Nerve 2009 Jul;40(1):10-8. doi: 10.1002/mus.21318. PMID: 19466717

Prognosis

Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.
Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T
N Engl J Med 2023 Sep 28;389(13):1203-1210. doi: 10.1056/NEJMoa2307798. PMID: 37754285
Malignant syndromes: current advances.
Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Rhabdomyolysis: a review of the literature.
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484
Walker-Warburg syndrome.
Vajsar J, Schachter H
Orphanet J Rare Dis 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. PMID: 16887026Free PMC Article

Clinical prediction guides

Nerve and Muscle Abnormalities.
Rubin DA
Magn Reson Imaging Clin N Am 2020 May;28(2):285-300. Epub 2020 Feb 17 doi: 10.1016/j.mric.2019.12.010. PMID: 32241664
Effects of a physical therapy program combined with manual lymphatic drainage on shoulder function, quality of life, lymphedema incidence, and pain in breast cancer patients with axillary web syndrome following axillary dissection.
Cho Y, Do J, Jung S, Kwon O, Jeon JY
Support Care Cancer 2016 May;24(5):2047-2057. Epub 2015 Nov 5 doi: 10.1007/s00520-015-3005-1. PMID: 26542271
The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.
Friedrich O, Reid MB, Van den Berghe G, Vanhorebeek I, Hermans G, Rich MM, Larsson L
Physiol Rev 2015 Jul;95(3):1025-109. doi: 10.1152/physrev.00028.2014. PMID: 26133937Free PMC Article
Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Understanding postoperative fatigue.
Rose EA, King TC
Surg Gynecol Obstet 1978 Jul;147(1):97-102. PMID: 351838

Recent systematic reviews

Highly Purified Cannabidiol for Epilepsy Treatment: A Systematic Review of Epileptic Conditions Beyond Dravet Syndrome and Lennox-Gastaut Syndrome.
Lattanzi S, Trinka E, Striano P, Rocchi C, Salvemini S, Silvestrini M, Brigo F
CNS Drugs 2021 Mar;35(3):265-281. Epub 2021 Mar 22 doi: 10.1007/s40263-021-00807-y. PMID: 33754312Free PMC Article
Beyond muscle destruction: a systematic review of rhabdomyolysis for clinical practice.
Chavez LO, Leon M, Einav S, Varon J
Crit Care 2016 Jun 15;20(1):135. doi: 10.1186/s13054-016-1314-5. PMID: 27301374Free PMC Article
Electrotherapy modalities for rotator cuff disease.
Page MJ, Green S, Mrocki MA, Surace SJ, Deitch J, McBain B, Lyttle N, Buchbinder R
Cochrane Database Syst Rev 2016 Jun 10;2016(6):CD012225. doi: 10.1002/14651858.CD012225. PMID: 27283591Free PMC Article
Physical rehabilitation for critical illness myopathy and neuropathy.
Mehrholz J, Pohl M, Kugler J, Burridge J, Mückel S, Elsner B
Cochrane Database Syst Rev 2015 Mar 4;(3):CD010942. doi: 10.1002/14651858.CD010942.pub2. PMID: 25737049
Comparative efficacy and safety of skeletal muscle relaxants for spasticity and musculoskeletal conditions: a systematic review.
Chou R, Peterson K, Helfand M
J Pain Symptom Manage 2004 Aug;28(2):140-75. doi: 10.1016/j.jpainsymman.2004.05.002. PMID: 15276195

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