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Severe childhood autosomal recessive muscular dystrophy

MedGen UID:
629482
•Concept ID:
C0456702
•
Disease or Syndrome
Synonym: SCARMD - Severe childhood autosomal recessive muscular dystrophy
SNOMED CT: SCARMD - Severe childhood autosomal recessive muscular dystrophy (277373000); Severe childhood autosomal recessive muscular dystrophy (277373000)

Professional guidelines

PubMed

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138
Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
Capalbo A, Fabiani M, Caroselli S, Poli M, Girardi L, Patassini C, Favero F, Cimadomo D, Vaiarelli A, Simon C, Rienzi LF, Ubaldi FM
Hum Reprod 2021 Jun 18;36(7):2050-2061. doi: 10.1093/humrep/deab087. PMID: 34021342
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J
J Neuromuscul Dis 2018;5(2):145-158. doi: 10.3233/JND-180304. PMID: 29614695Free PMC Article

Recent clinical studies

Etiology

Nondystrophinopathic muscular dystrophies including myotonic dystrophy.
Nonaka I, Kobayashi O, Osari S
Semin Pediatr Neurol 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. PMID: 8795845
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M
Hum Mol Genet 1995 Jul;4(7):1163-7. doi: 10.1093/hmg/4.7.1163. PMID: 8528203
The muscular dystrophies.
Bushby KM
Baillieres Clin Neurol 1994 Aug;3(2):407-30. PMID: 7952855

Diagnosis

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.
Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P
Eur J Med Genet 2014 Oct;57(10):552-7. Epub 2014 Aug 6 doi: 10.1016/j.ejmg.2014.07.003. PMID: 25106685
Nondystrophinopathic muscular dystrophies including myotonic dystrophy.
Nonaka I, Kobayashi O, Osari S
Semin Pediatr Neurol 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. PMID: 8795845
Neurosensory hearing loss in secondary adhalinopathy.
Oexle K, Herrmann R, Dodé C, Leturcq F, Hübner C, Kaplan JC, Mizuno Y, Ozawa E, Campbell KP, Voit T
Neuropediatrics 1996 Feb;27(1):32-6. doi: 10.1055/s-2007-973744. PMID: 8677023
Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.
Salih MA, Mahdi AH, al-Rikabi AC, al-Bunyan M, Roberds SL, Anderson RD, Campbell KP
Dev Med Child Neurol 1996 Mar;38(3):262-70. doi: 10.1111/j.1469-8749.1996.tb15089.x. PMID: 8631523
The muscular dystrophies.
Bushby KM
Baillieres Clin Neurol 1994 Aug;3(2):407-30. PMID: 7952855

Prognosis

gamma-sarcoglycan deficiency muscular dystrophy in two adults.
Lin KL, Wang HS, Chen ST, Ro LS
J Formos Med Assoc 2000 Oct;99(10):789-91. PMID: 11061077
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.
Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M
Muscle Nerve 1998 Apr;21(4):421-38. doi: 10.1002/(sici)1097-4598(199804)21:4<421::aid-mus1>3.0.co;2-b. PMID: 9533777
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.
Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA
Hum Mol Genet 1996 Aug;5(8):1179-86. doi: 10.1093/hmg/5.8.1179. PMID: 8842738
The muscular dystrophies.
Bushby KM
Baillieres Clin Neurol 1994 Aug;3(2):407-30. PMID: 7952855
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM
Proc Natl Acad Sci U S A 1994 Oct 11;91(21):9690-4. doi: 10.1073/pnas.91.21.9690. PMID: 7937874Free PMC Article

Clinical prediction guides

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.
Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M
Muscle Nerve 1998 Apr;21(4):421-38. doi: 10.1002/(sici)1097-4598(199804)21:4<421::aid-mus1>3.0.co;2-b. PMID: 9533777
Childhood neuromuscular disorders: a decade's experience in Saudi Arabia.
Salih MA, Mahdi AH, al-Jarallah AA, al Jarallah AS, al-Saadi M, Hafeez MA, Aziz SA
Ann Trop Paediatr 1996 Dec;16(4):271-80. doi: 10.1080/02724936.1996.11747838. PMID: 8985523
Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.
Salih MA, Mahdi AH, al-Rikabi AC, al-Bunyan M, Roberds SL, Anderson RD, Campbell KP
Dev Med Child Neurol 1996 Mar;38(3):262-70. doi: 10.1111/j.1469-8749.1996.tb15089.x. PMID: 8631523
Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.
Yamada H, Tomé FM, Higuchi I, Kawai H, Azibi K, Chaouch M, Roberds SL, Tanaka T, Fujita S, Mitsui T
Lab Invest 1995 Jun;72(6):715-22. PMID: 7783429
The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.
Mendell JR, Sahenk Z, Prior TW
J Child Neurol 1995 Mar;10(2):150-9. doi: 10.1177/088307389501000219. PMID: 7782608

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