Neurogenetic Counseling

Peripheral Neuropathy Management Peripheral neuropathy is a condition caused by damage to the peripheral nerves, leading to symptoms such as numbness, tingling, burning pain, weakness, or loss of sensation—most commonly in the hands and feet. Effective management focuses on identifying the underlying cause, relieving symptoms, and preventing further nerve damage. Causes of Peripheral Neuropathy Diabetes (most common cause) Vitamin deficiencies (especially B12) Infections and autoimmune disorders Toxins, alcohol, and certain medications Genetic and metabolic conditions

Neuromuscular disorders are a group of conditions that affect the nerves controlling voluntary muscles, the muscles themselves, or the connection between nerves and muscles. These disorders can lead to muscle weakness, fatigue, cramps, and loss of muscle function, significantly impacting daily activities and quality of life. Types of Neuromuscular Disorders Peripheral neuropathies – Damage to peripheral nerves (e.g., diabetic neuropathy) Motor neuron diseases – Such as amyotrophic lateral sclerosis (ALS) Muscle disorders (myopathies) – Including muscular dystrophies and inflammatory myopathies Neuromuscular junction disorders – Such as myasthenia gravis Inherited neuromuscular diseases – Genetic conditions affecting nerves or muscles Causes Neuromuscular disorders may be caused by: Genetic abnormalities Autoimmune diseases Metabolic and endocrine disorders Infections or toxins Medications and systemic illnesses

Parkinson’s disease is a progressive neurological movement disorder that primarily affects movement control. It occurs due to the gradual loss of dopamine-producing nerve cells in a specific area of the brain, leading to characteristic motor and non-motor symptoms. Key Symptoms Parkinson’s disease typically presents with a combination of the following: Tremor at rest, often starting in one hand Bradykinesia (slowness of movement) Muscle rigidity Postural instability and balance problems In addition to movement-related symptoms, patients may experience non-motor symptoms such as sleep disturbances, constipation, mood changes, memory problems, and reduced sense of smell. Causes and Risk Factors The exact cause of Parkinson’s disease is unknown. Factors that may contribute include genetic susceptibility, environmental exposures, and aging.