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Fingerprint body myopathy

MedGen UID:
337026
•Concept ID:
C1844560
•
Disease or Syndrome
Synonym: Fingerprint Body Myopathy
 
Monarch Initiative: MONDO:0010591
OMIM®: 305550
Orphanet: ORPHA97232

Definition

Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. [from ORDO]

Clinical features

From HPO
Myopathy
MedGen UID:
10135
•Concept ID:
C0026848
•
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFingerprint body myopathy
Follow this link to review classifications for Fingerprint body myopathy in Orphanet.

Recent clinical studies

Etiology

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Fingerprint body myopathy: a report of twins.
Curless RG, Payne CM, Brinner FM
Dev Med Child Neurol 1978 Dec;20(6):793-8. doi: 10.1111/j.1469-8749.1978.tb15312.x. PMID: 729932

Diagnosis

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Marguet F, Rendu J, Vanhulle C, Bedat-Millet AL, Brehin AC, Fauré J, Laquerrière A
Neuromuscul Disord 2020 Mar;30(3):207-212. Epub 2019 Dec 20 doi: 10.1016/j.nmd.2019.12.005. PMID: 32008911

Prognosis

Fingerprint body myopathy: a report of twins.
Curless RG, Payne CM, Brinner FM
Dev Med Child Neurol 1978 Dec;20(6):793-8. doi: 10.1111/j.1469-8749.1978.tb15312.x. PMID: 729932

Clinical prediction guides

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Marguet F, Rendu J, Vanhulle C, Bedat-Millet AL, Brehin AC, Fauré J, Laquerrière A
Neuromuscul Disord 2020 Mar;30(3):207-212. Epub 2019 Dec 20 doi: 10.1016/j.nmd.2019.12.005. PMID: 32008911

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