From the Research
Early diagnosis of Machado Joseph disease (MJD) for patients with needle allergies can be achieved through genetic testing using non-invasive methods such as saliva or buccal swab samples, as well as neuroimaging techniques like MRI, which can reveal characteristic cerebellar and brainstem atrophy supporting the diagnosis, as recently highlighted in a study on cerebellar morphometric and spectroscopic biomarkers for MJD 1. For patients with a family history of MJD, genetic counseling should be sought first to discuss the implications of testing. Clinical evaluation remains essential and includes assessment of:
- ataxia (unsteady gait)
- abnormal eye movements
- spasticity
- peripheral neuropathy Neuropsychological testing may detect early cognitive changes. These non-invasive approaches allow for comprehensive evaluation without needle-based procedures. Early diagnosis is crucial as it enables proactive symptom management, appropriate physical therapy, and participation in clinical trials, even though MJD currently has no cure, as discussed in recent reviews on the current understanding and therapeutic prospects for MJD 2, 3. Genetic confirmation also helps family members understand their own risk and make informed reproductive decisions, as emphasized in studies on the molecular genetics and genetic counseling for MJD 4, 5.