Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Year: October 15, 2024
Neuromuscular Specialist
5
No OPD information available
Becker Muscular Dystrophy
Cramp-Fasciculation Syndrome
Duchenne Muscular Dystrophy
Fetal Akinesia Sequence
Primary Lateral Sclerosis
Amyotonia Congenita
Arthrogryposis Multiplex Congenita
Claw Foot
Congenital Contractures
Distal Arthrogryposis
Distal Arthrogryposis Type 6
Epilepsy
Hammer Toe
High Arch
Hypotonia
Limb-Girdle Muscular Dystrophy
Mosaicism
Muscle Atrophy
Myotonia Congenita
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy Type 2
Spinal Muscular Atrophy Type 3
Anita G. Cairns is a female medical professional who helps people with various muscle and nerve conditions like Becker Muscular Dystrophy, Epilepsy, and Hammer Toe. She also works with patients who have genetic disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.
Anita G. Cairns uses special skills and treatments to care for her patients. She communicates with them in a friendly and understanding way, which helps them feel comfortable and trust her expertise. Patients appreciate her caring approach and the way she explains things clearly.
To stay updated with the latest medical knowledge, Anita G. Cairns regularly reads research papers and attends conferences. This helps her provide the best possible care to her patients. She also collaborates with other medical professionals to share knowledge and improve patient outcomes.
Anita G. Cairns has made a positive impact on many patients' lives. Her work has helped improve muscle strength, reduce pain, and enhance overall quality of life for those she treats. Patients often praise her for her dedication and compassion.
One of Anita G. Cairns's notable publications is a study on a genetic disorder called distal myopathy. She has also been involved in clinical trials to test new treatments for conditions like Spinal Muscular Atrophy. Through her research and clinical work, Anita G. Cairns continues to contribute to advancements in the field of neuromuscular medicine.
In summary, Anita G. Cairns is a caring and knowledgeable medical professional who helps people with muscle and nerve conditions. She stays updated with the latest research, collaborates with colleagues, and makes a positive impact on her patients' lives.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Year: October 15, 2024
Enrollment Status: Completed
Published: January 13, 2025
Intervention Type: Drug
Study Drug: Nusinersen
Study Phase: Phase 2
Anita G. Cairns is a fantastic Neuromuscular Specialist. She really took the time to listen to my concerns and provided thorough explanations. I feel much better after seeing her. Highly recommend!
I had a great experience with Anita G. Cairns. She is very knowledgeable and caring. Her treatment plan has made a significant difference in managing my neuromuscular issues. Thank you!
Anita G. Cairns is an exceptional Neuromuscular Specialist. She is compassionate and skilled in her approach. I am grateful for the care I received from her.
I highly recommend Anita G. Cairns for anyone seeking a Neuromuscular Specialist. She is professional, friendly, and truly cares about her patients' well-being. I am very satisfied with the treatment I received.
Anita G. Cairns is a top-notch Neuromuscular Specialist in Brisbane. She has a great bedside manner and made me feel comfortable throughout the entire process. I am so thankful for her expertise.
I had a wonderful experience with Anita G. Cairns. She is a skilled Neuromuscular Specialist who goes above and beyond for her patients. I am extremely pleased with the care I received from her.
Anita G. Cairns is an amazing Neuromuscular Specialist. She is attentive, knowledgeable, and genuinely cares about her patients' well-being. I am very impressed with the level of care she provided.