• ADHD medicine may treat symptoms of gene

    From ScienceDaily@1:317/3 to All on Wed Feb 2 21:30:42 2022
    ADHD medicine may treat symptoms of genetic movement disorder in
    children, study finds
    Common ADHD medication may provide insight into other ways to treat this
    and other neuromuscular diseases

    Date:
    February 2, 2022
    Source:
    University of Maryland School of Medicine
    Summary:
    Using a common attention deficit hyperactivity disorder (ADHD)
    medication appears to help manage the symptoms of a rare and
    currently difficult to treat genetic movement disorder primarily
    found in children, according to a new study. The disorder,
    KCNMA1-linked channelopathy, named after the affected gene, can
    cause abnormal, involuntary movements from collapsing episodes,
    in which patients slump forward with their arms and legs appearing
    rigid.



    FULL STORY ========================================================================== Using a common attention deficit hyperactivity disorder (ADHD) medication appears to help manage the symptoms of a rare and currently difficult to
    treat genetic movement disorder primarily found in children, according
    to a new study from a University of Maryland School of Medicine (UMSOM) researcher Andrea Meredith, PhD, and her collaborators.


    ==========================================================================
    The disorder, KCNMA1-linked channelopathy, named after the affected gene,
    can cause abnormal, involuntary movements from collapsing episodes,
    in which patients slump forward with their arms and legs appearing
    rigid. These episodes can occur up to 300 times per day, putting patients
    at risk of serious injury.

    The researcher found that the stimulant drug, lisdexamfetamine, reduced
    these attacks and may help other accompanying symptoms, such as seizures
    and developmental delays, as well.

    These findings were published online on December 11, 2021 in Movement
    Disorders Clinical Practice.

    The researchers say their findings can help to better understand
    different brain regions involved with the attacks and how the disease
    manifests itself.

    While this research shows promise of specifically treating KCNMA1-linked channelopathy, there are broader implications to exploring the treatment effects on the body, potentially shedding light on the mechanisms behind
    other neuromuscular diseases and how to treat them.

    "Sometimes the science doesn't initially lead us to the answers, it
    is often the patients and families themselves," said senior author
    Dr. Meredith, Professor of Physiology at the University of Maryland
    School of Medicine.



    ==========================================================================
    Only about 75 people so far have been identified worldwide with this
    disorder which was identified as recently as 2005. A major advance came
    in 2019 when it was reported anecdotally that a child suffering from
    the disorder was prescribed lisdexamfetamine by their neurologist,
    which according to the family seemed to help. The physician tried
    this stimulant medication, commonly used to treat cataplexy-related
    disorders; the child's symptoms resembled cataplexy, which is a sudden
    muscle weakness without losing consciousness. From there, word spread to
    other families over social media, news media, and the disease's advocacy foundation, KCNMA1 Channelopathy International Advocacy Foundation,
    that was co-founded by Dr. Meredith. The buzz from the patients' families spurred neurologists, including the study authors, to test the relatively
    safe drug that is approved by the U.S. Food and Drug Administration to
    treat ADHD.

    For their study, the researchers analyzed reports of six patients
    treated with lisdexamfetamine. They found that the collapsing episodes
    were reduced by about 10-fold or were completely resolved in four
    patients. Most patients also showed improvements in speech, school
    performance, concentration, and social skills, all of which can affect
    patients with this disease as well. None of the patients experienced
    seizures during the study period. The most common side effect reported
    was loss of appetite and difficulty sleeping.

    "From the anecdotal reports we already had, we weren't particularly
    surprised by these findings," said Dr. Meredith. "But gathering the
    real-world evidence that the drug is actually working to treat the
    symptoms is important for clinicians who may prescribe the drug
    to officially diagnosed patients." It is currently unclear how lisdexamfetamine works to treat the attacks. The gene affected in the
    disorder, KCNMA1, encodes a protein that makes a 'channel' in brain and
    muscle cells. This channel lets potassium out of the cell to change its electric charge. Neurons in the brain send messages and tell the muscles
    to move using these electrical signals, but the exact way this channel disruption leads to the symptoms experienced by the patients is unknown.

    However, the success of lisdexamfetamine treatment in the small group of patients may provide the answers. "We have exciting mechanistic avenues
    to pursue as a result of this finding," said Dr. Meredith. "We do know
    that the drug does not directly affect the activity of the channels,
    so we think the drug has either a separate, or an indirect effect,
    on the channels." They researchers plan to continue studies of the
    disorder and the drug in their mouse models.



    ========================================================================== "Rare diseases are often overlooked in research and treatment,"said
    E. Albert Reece, MD, PhD, MBA, Executive Vice President for Medical
    Affairs, UM Baltimore, and the John Z. and Akiko K. Bowers Distinguished Professor and Dean, University of Maryland School of Medicine. "We are
    proud of our researchers in pursuing treatment of a rare disease that
    opens new doors, pushes medical boundaries, and improves the lives of
    those who may feel left behind." Other authors on the study included
    Sotirios Keros, MD, PhD, and Zach Grinspan, MD, MS, of Weill Cornell
    Medical College; Jennifer Heim, MD, Wejdan Hakami, and Michael Kruer,
    MD, of Phoenix Children's Hospital; and Efrat Zohar-Dayan and Bruria
    Ben-Zeev, MD, of Chaim Sheba Medical Center, Israel.

    Dr. Meredith's research is supported by grants from the National Heart,
    Lung, and Blood Institute (R01-HL102758), the National Institute of
    General Medical Sciences (T32-GM008181), and the S&R Foundation Ryuji
    Ueno Award for Ion Channels Research (The American Physiological Society).

    Dr. Keros, Dr. Meredith, and Dr. Kruer are uncompensated officers of the
    non- profit KCNMA1 Channelopathy International Advocacy Foundation. The
    authors declare no conflicts of interest related to this work.

    special promotion Explore the latest scientific research on sleep and
    dreams in this free online course from New Scientist -- Sign_up_now_>>> ========================================================================== Story Source: Materials provided by
    University_of_Maryland_School_of_Medicine. Original written by Vanessa
    McMains. Note: Content may be edited for style and length.


    ========================================================================== Journal Reference:
    1. Sotirios Keros, Jennifer Heim, Wejdan Hakami, Efrat
    Zohar‐Dayan,
    Bruria Ben‐Zeev, Zach Grinspan, Michael C. Kruer, Andrea L.

    Meredith. Lisdexamfetamine Therapy in Paroxysmal
    Non‐kinesigenic Dyskinesia Associated with the
    KCNMA1‐N999S Variant. Movement Disorders Clinical Practice,
    2021; DOI: 10.1002/mdc3.13394 ==========================================================================

    Link to news story: https://www.sciencedaily.com/releases/2022/02/220202153913.htm

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