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Myopathy, distal, 5(MPD5)

MedGen UID:
1798944
Concept ID:
C5567521
Disease or Syndrome
Synonyms: Adenylosuccinate synthetase-like 1-related distal myopathy; MPD5
SNOMED CT: ADSSL1-related distal myopathy (1172694007); Adenylosuccinate synthetase-like 1-related distal myopathy (1172694007)
 
Gene (location): ADSS1 (14q32.33)
 
Monarch Initiative: MONDO:0014877
OMIM®: 617030
Orphanet: ORPHA482601

Definition

Distal myopathy-5 (MPD5) is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016). [from OMIM]

Clinical features

From HPO
Hyporeflexia of lower limbs
MedGen UID:
371881
Concept ID:
C1834696
Finding
Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
Distal lower limb muscle weakness
MedGen UID:
324514
Concept ID:
C1836450
Finding
Reduced strength of the distal musculature of the legs.
Distal upper limb muscle weakness
MedGen UID:
461970
Concept ID:
C3150620
Finding
Reduced strength of the distal musculature of the arms.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Weakness of facial musculature
MedGen UID:
98103
Concept ID:
C0427055
Disease or Syndrome
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Muscle fiber splitting
MedGen UID:
322813
Concept ID:
C1836057
Finding
Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Rimmed vacuoles
MedGen UID:
340089
Concept ID:
C1853932
Finding
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
Mildly elevated creatine kinase
MedGen UID:
342469
Concept ID:
C1850309
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyopathy, distal, 5

Professional guidelines

PubMed

Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A
Neurogenetics 2023 Jan;24(1):43-53. Epub 2022 Dec 29 doi: 10.1007/s10048-022-00707-3. PMID: 36580222
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255

Recent clinical studies

Etiology

de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG
Brain 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. PMID: 36913258
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Fanin M, Angelini C
Muscle Nerve 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. PMID: 27501525
Oldfors A
Neuromuscul Disord 2007 May;17(5):355-67. Epub 2007 Apr 16 doi: 10.1016/j.nmd.2007.02.008. PMID: 17434305
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432

Diagnosis

Yu J, Deng J, Wang Z
Curr Opin Neurol 2022 Oct 1;35(5):637-644. Epub 2022 Aug 4 doi: 10.1097/WCO.0000000000001089. PMID: 35942670
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P
Genes (Basel) 2020 May 11;11(5) doi: 10.3390/genes11050539. PMID: 32403337Free PMC Article
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432
Udd B, Griggs R
Curr Opin Neurol 2001 Oct;14(5):561-6. doi: 10.1097/00019052-200110000-00003. PMID: 11562566

Therapy

Yoshioka W, Nishino I, Noguchi S
Curr Opin Neurol 2022 Oct 1;35(5):629-636. Epub 2022 Aug 11 doi: 10.1097/WCO.0000000000001090. PMID: 35959526
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Haran M, Schattner A, Kozak N, Mate A, Berrebi A, Shvidel L
QJM 2018 May 1;111(5):307-311. doi: 10.1093/qjmed/hcy031. PMID: 29462474
Merlini L, Bernardi P
Neurotherapeutics 2008 Oct;5(4):613-8. doi: 10.1016/j.nurt.2008.08.004. PMID: 19019314Free PMC Article
Finsterer J
Eur J Neurol 2002 Sep;9(5):441-7. doi: 10.1046/j.1468-1331.2002.00453.x. PMID: 12220374

Prognosis

Lillback V, Savarese M, Sandholm N, Hackman P, Udd B
Eur J Neurol 2023 Apr;30(4):1080-1088. Epub 2023 Feb 8 doi: 10.1111/ene.15688. PMID: 36692225
Leclair V, D'Aoust J, Gyger G, Landon-Cardinal O, Meyer A, O'Ferrall E, Karamchandani J, Massie R, Ellezam B, Satoh M, Troyanov Y, Fritzler MJ, Hudson M; Canadian Inflammatory Myopathy Study Group
Rheumatology (Oxford) 2022 Mar 2;61(3):1148-1157. doi: 10.1093/rheumatology/keab492. PMID: 34146090
Gilchrist JM, Dandapat S
Hand (N Y) 2020 Sep;15(5):599-607. Epub 2020 Feb 5 doi: 10.1177/1558944719898801. PMID: 32020820Free PMC Article
Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, Lee JH, Choi YC
Neuromuscul Disord 2017 May;27(5):465-472. Epub 2017 Feb 14 doi: 10.1016/j.nmd.2017.02.004. PMID: 28268051
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255

Clinical prediction guides

de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG
Brain 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. PMID: 36913258
Chompoopong P, Oskarsson B, Madigan NN, Mirman I, Martinez-Thompson JM, Liewluck T, Milone M
Ann Clin Transl Neurol 2023 Apr;10(4):632-643. Epub 2023 Mar 1 doi: 10.1002/acn3.51751. PMID: 36861178Free PMC Article
Yoshioka W, Nishino I, Noguchi S
Curr Opin Neurol 2022 Oct 1;35(5):629-636. Epub 2022 Aug 11 doi: 10.1097/WCO.0000000000001090. PMID: 35959526
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Gonçalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreira CFDR, Camelo CG, Mendonça RDH, Estephan EDP, Reed UC, Machado-Costa MC, Dourado-Junior MET, Pereira VC, Cruzeiro MM, Helito PVP, Aivazoglou LU, Camargo LVD, Gomes HH, Camargo AJSD, Pinto WBVDR, Badia BML, Libardi LH, Yanagiura MT, Oliveira ASB, Nucci A, Saute JAM, França-Junior MC, Zanoteli E
Ann Clin Transl Neurol 2019 Jul;6(7):1225-1238. Epub 2019 Jun 11 doi: 10.1002/acn3.50801. PMID: 31353849Free PMC Article

Recent systematic reviews

Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561Free PMC Article

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