BEUDAMED
    FDA Adverse Event Injury Summary report: N

    UNKNOWN IMPLANTABLE NEUROSTIMULATOR

    MDR report key: 6352724 · Received February 23, 2017

    Report

    Report Number
    3007566237-2017-00765
    Event Type
    Injury
    Date Received
    February 23, 2017
    Date of Event
    December 19, 2016
    Report Date
    February 23, 2017
    Manufacturer
    MEDTRONIC NEUROMODULATION
    Product Code
    MRU
    PMA / PMN Number
    H020007
    Adverse Event
    Yes
    Report Source
    Manufacturer report
    Reporter Location
    UK
    Reporter Occupation
    HEALTH PROFESSIONAL

    Narratives

    Additional Manufacturer Narrative · 1

    DATE OF EVENT: PLEASE NOTE THAT THIS DATE IS BASED OFF THE DATE OF PUBLICATION OF THE ARTICLE AS THE ACTUAL EVENT DATE WAS NOT PROVIDED. CONCOMITANT MEDICAL PRODUCTS: PRODUCT ID NEU_UNKNOWN_LEAD, PRODUCT TYPE: LEAD. A GOOD FAITH EFFORT WILL BE MADE TO OBTAIN THE APPLICABLE INFORMATION RELEVANT TO THE REPORT. IF INFORMATION IS PROVIDED IN THE FUTURE, A SUPPLEMENTAL REPORT WILL BE ISSUED.

    Additional Manufacturer Narrative · 1

    IF INFORMATION IS PROVIDED IN THE FUTURE, A SUPPLEMENTAL REPORT WILL BE ISSUED.

    Description of Event or Problem · 1

    MEYER E, CARSS KJ, RANKIN J, NICHOLS JME, GROZEVA D, JOSEPH AP, MENCACCI NE, PAPANDREOU A, NG J, BARRAL S, NGOH A, BEN-PAZI H, WILLEMSEN MA, ARKADIR D, BARNICOAT A, BERGMAN H, BHATE S, BOYS A, DARIN N, FOULDS N, GUTOWSKI N, HILLS A, HOULDEN H, HURST JA, ISRAEL Z, KAMINSKA M, LIMOUSIN P, LUMSDEN D, MCKEE S, MISRA S, MOHAMMED SS, NAKOU V, NICOLAI J, NILSSON M, PALL H, PEALL KJ, PETERS GB, PRABHAKAR P, REUTER MS, RUMP P, SEGEL R, SINNEMA M, SMITH M, TURNPENNY P, WHITE SM, WIECZOREK D, WIETHOFF S, WILSON BT, WINTER G, WRAGG C, POPE S, HEALES SJH, MORROGH D, UK10K CONSORTIUM, DECIPHERING DEVELOPMENTAL DISORDERS STUDY, NIHR BIORESOURCE RARE DISEASES CONSORTIUM, PITTMAN A, CARR LJ, PEREZ-DUENAS B, LIN JP, REIS, A, GAHL WA, TORO C, BHATIA KP, WOOD NW, KAMSTEEG EJ, CHONG WK, GISSEN P, TOPF M, DALE RC, CHUBB JR, RAYMOND FL, KURIAN MA. MUTATIONS IN THE HISTONE METHYLTRANSFERASE GENE KMT2B CAUSE COMPLEX EARLY-ONSET DYSTONIA. NATURE GENETICS (2016) DOI: 10.1038/NG.3740. SUMMARY: HISTONE LYSINE METHYLATION, MEDIATED BY MIXED-LINEAGE LEUKEMIA (MLL) PROTEINS, IS NOW KNOWN TO BE CRITICAL IN THE REGULATION OF GENE EXPRESSION, GENOMIC STABILITY, CELL CYCLE AND NUCLEAR ARCHITECTURE. DESPITE MLL PROTEINS BEING POSTULATED AS ESSENTIAL FOR NORMAL DEVELOPMENT, LITTLE IS KNOWN ABOUT THE SPECIFIC FUNCTIONS OF THE DIFFERENT MLL LYSINE METHYLTRANSFERASES. HERE WE REPORT HETEROZYGOUS VARIANTS IN THE GENE KMT2B (ALSO KNOWN AS MLL4) IN 27 UNRELATED INDIVIDUALS WITH A COMPLEX PROGRESSIVE CHILDHOOD-ONSET DYSTONIA, OFTEN ASSOCIATED WITH A TYPICAL FACIAL APPEARANCE AND CHARACTERISTIC BRAIN MAGNETIC RESONANCE IMAGING FINDINGS. OVER TIME, THE MAJORITY OF AFFECTED INDIVIDUALS DEVELOPED PROMINENT CERVICAL, CRANIAL, AND LARYNGEAL DYSTONIA. MARKED CLINICAL BENEFIT, INCLUDING THE RESTORATION OF INDEPENDENT AMBULATION IN SOME CASES, WAS OBSERVED FOLLOWING DEEP BRAIN STIMULATION (DBS). THESE FINDINGS HIGHLIGHT A CLINICALLY RECOGNIZABLE AND POTENTIALLY TREATABLE FORM OF GENETIC DYSTONIA, DEMONSTRATING THE CRUCIAL ROLE OF KMT2B IN THE PHYSIOLOGICAL CONTROL OF VOLUNTARY MOVEMENT. REPORTED EVENT: PATIENT 20: ONE (B)(6) MALE PATIENT UNDERWENT BILATERAL GLOBUS PALLIDUS INTERNUS (GPI) DEEP BRAIN STIMULATION (DBS) IMPLANT FOR TREATMENT OF DYSTONIA. THE PATIENT EXPERIENCED NO BENEFIT. HOWEVER, THE ELECTRODE WAS REPLACED IN 2009 WITH SUSTAINED IMPROVEMENT IN FOOT POSTURE, BUT ONLY TRANSIENT BENEFIT TO CERVICAL, UPPER LIMB AND LOWER LIMB DYSTONIA. NO SPECIFIC DEVICE INFORMATION WAS PROVIDED.

    Devices

    Seq Brand Generic Product Code Manufacturer Model Lot UDI-DI
    134756 UNKNOWN IMPLANTABLE NEUROSTIMULATOR IMPLANTED SUBCORTICAL ELECTRICAL STIMULATOR (MOTOR DISORDERS) MRU MEDTRONIC NEUROMODULATION NEU_INS_STIMULATOR UNKNOWN

    Patients

    Seq Age Sex Outcome Treatment
    1 32 YR Required Intervention