How is Dejerine Sottas Disease diagnosed?
See how Dejerine Sottas Disease is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Dejerine Sottas Disease
Dejerine-Sottas Disease (DSD) is a rare genetic disorder that affects the peripheral nerves, causing progressive muscle weakness and sensory loss. Diagnosing DSD can be challenging due to its rarity and overlapping symptoms with other neurological conditions. However, several diagnostic methods can help identify this condition.
Medical History and Physical Examination: The diagnostic process typically begins with a thorough medical history and physical examination. The doctor will inquire about the patient's symptoms, family history, and any previous medical conditions. During the physical examination, the doctor will assess muscle strength, reflexes, coordination, and sensation.
Nerve Conduction Studies (NCS): NCS is a common diagnostic test used to evaluate the function of peripheral nerves. It involves applying small electrical shocks to specific nerves and measuring the speed and strength of the nerve signals. In individuals with DSD, NCS often reveals significantly slowed nerve conduction velocities.
Electromyography (EMG): EMG is often performed in conjunction with NCS. It involves inserting a fine needle electrode into the muscles to assess their electrical activity. In DSD, EMG may show abnormal spontaneous activity and reduced motor unit recruitment, indicating nerve damage.
Nerve Biopsy: In some cases, a nerve biopsy may be recommended to confirm the diagnosis. During this procedure, a small sample of peripheral nerve tissue is surgically removed and examined under a microscope. The biopsy can reveal characteristic abnormalities in the nerve fibers, such as onion bulb formations or thinning of the myelin sheath.
Genetic Testing: Genetic testing plays a crucial role in diagnosing DSD. It involves analyzing a blood or saliva sample to identify specific mutations in genes associated with the disease, such as PMP22, MPZ, or EGR2. Genetic testing can confirm the presence of these mutations, helping to differentiate DSD from other similar conditions.
MRI and CT Scans: Imaging tests like magnetic resonance imaging (MRI) or computed tomography (CT) scans may be performed to assess the structure of the peripheral nerves and rule out other potential causes of symptoms.
It is important to note that the diagnostic process for DSD may vary depending on the individual case and the expertise of the healthcare provider. Consulting with a neurologist or a geneticist experienced in rare neurological disorders is crucial for an accurate diagnosis.
