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Research Updates

2022 Research Updates

2022 Research

Kennedy's Disease/Spinal and Bulbar Muscular Atrophy

Dr. Al La Spada, who discovered the gene mutation that causes Kennedy's Disease, has published the attached summary with frequent updates since 1991.  The current, 2022, version contains a wealth of information on diagnosis, disease management, differential diagnoses with related neuromuscular diseases, genetics, and other topics. This is an excellent resource for researchers, clinicians, patients, and families. You can read Dr. La Spada's paper by clicking here.

The KD-UK Patient Day Presentations

KD-UK held their latest Kennedy’s Disease Patients day in London. You can read and download any of  the presentations by clicking on the link below.

KD-UK Research Presentations.

Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report

Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive hereditary neuromuscular disorder caused by the expanded trinucleotide repeat in the androgen receptors gene. The major clinical manifestations of SBMA consist of weakness in the bulbar and limb muscles, fasciculations, tremors, cramps, sensory impairment, and gynecomastia. However, atypical SBMA cases may lead to misdiagnosis. Muscular fatigue and decremental responses to repetitive nerve stimulation (RNS), despite being observed in some SBMA patients, are usually occurred in MG patients, and patient with the symptom of mastication fatigue was rarely reported. To read the research study, click here.

Groundbreaking’ Cybernetic Therapy Improves Walking in SBMA

Two years of training with a wearable cyborg hybrid assistive limb (HAL), combined with leuprorelin therapy, markedly improved the walking abilities of a man with spinal and bulbar muscular atrophy (SBMA), a case study reports. This report describes the first successful case in the history of SBMA treatment in which the improvement and maintenance of ambulatory [walking] motor function were observed over [two] years, To read the report, click here.

Application Value of the Motor Unit Number Index in Patients With Kennedy Disease

The aim of this study was to evaluate the usefulness of the motor unit number index (MUNIX) technique in Kennedy disease (KD) and test the correlation between the MUNIX and other clinical parameters. The MUNIX values of the bilateral deltoid, abductor digiti minimi (ADM), quadriceps femoris (QF), and tibialis anterior (TA) were determined and compared with the course of the disease. To read the article, click here.