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… On this page What is Coffin-Lowry syndrome? Coffin-Lowry syndrome is a rare genetic disorder characterized by … cure and no standard course of treatment for Coffin-Lowry syndrome, which may include physical and speech therapy and …
… (ALS), formerly known as Lou Gehrig's disease, is a neurological disorder that affects motor neurons. Motor … may conduct muscle and imaging tests to rule out other disorders. This can help support an ALS diagnosis. One test … fluid (CSF) Muscle biopsy Find out more about neurological diagnostic tests and procedures . Treating ALS …
… aimed at strengthening our understanding of the burden of neurological disease and identifying opportunities for … to enable the conduct of research and training in neurological disorders and stroke in low-resource settings is also of …
… time. Clinician-scientists, who understand diseases and disorders intimately due to their clinical training and … … Clinician-scientists, who understand diseases and disorders intimately due to their clinical training and …
… Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of … Disorders in which material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. …
… On this page What is myotonia congenita? Myotonia congenita is an inherited … can be mild. Most children will be two or three years old when parents first notice their muscle stiffness, … new and upcoming treatment options. Search Clinical Trials How can I or my loved one help improve care for people with …
… This can cause movement and sensory symptoms and trouble with walking and gait. In FA, nerve fibers in the spinal cord … body using sensory and motor signals. This is why a person with FA develops motor weakness and sensory loss. Symptoms … after the appearance of the first symptoms, individuals with FA may need to use a wheelchair. In later stages of the …
… On this page What is Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease … caused by complications of brain tumors or kidney cancer. What are the latest updates on VHL? The National Institute of …
… of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated or … kinase-associated neurodegeneration (PKAN) These disorders are caused by different genetic mutations … often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a …
… loss of muscle bulk, especially in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect … late life. They can vary among different family members, with some members having more severe symptoms than others. … disorders and improve care. They can help connect patients with new and upcoming treatment options. Search Clinical …