![]() Another common feature is degeneration of the retina, resulting in progressive night blindness and loss of peripheral (side) vision. These features can result in clumsiness, walking problems, difficulty controlling movement, and speech problems. Common features include an abnormality in muscle tone (dystonia), muscular rigidity, and sudden involuntary muscle spasms (spasticity). ![]() Symptoms may vary greatly from person to person. Individuals can plateau for long periods of time and then undergo intervals of rapid deterioration. Individuals with NBIA1 have iron accumulation in the brain along with a progressive movement disorder. Neurodegeneration with brain iron accumulation (NBIA) type 1 (Hallervorden-Spatz syndrome) is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). (For more information on these disorders, choose “ALS” as your search terms in the Rare Disease Database.) ALS is often called Lou Gehrig’s disease. Ultimately, ALS leads to respiratory failure because affected individuals lose the ability to control muscles in the chest and diaphragm. As a result, the ability to initiate and control voluntary movement is lost. ALS affects both the upper and lower motor neurons, so that the transmission of messages is interrupted, and muscles gradually weaken and waste away. Ordinarily, motor neurons in the brain (upper motor neurons) sent messages to motor neurons in the spinal cord (lower motor neurons) and then to various muscles. It is characterized by the progressive degeneration and eventual death of nerve cells (motor neurons) in the brain, brainstem and spinal cord that facilitate communication between the nervous system and voluntary muscles of the body. Comparisons may be useful for a differential diagnosis:Īmyotrophic lateral sclerosis (ALS) is one of a group of disorders known as motor neuron diseases. Symptoms of the following disorders can be similar to those of acquired neuromyotonia. It has also been reported following infections and radiation therapy. The disorder is also associated with peripheral neuropathies and autoimmune diseases including myasthenia gravis in some individuals. The thymus glands are the source of a number of specialized cells associated with autoimmune functions. In such cases the disorder may be referred to as Morvan syndrome.Īpproximately 20% of affected individuals have a tumor of the thymus gland (thymoma). In slightly fewer than 20% of patients, a set of symptoms, including arrhythmias, excessive salivation, memory loss, confusion, hallucinations, constipation, personality change and sleep disorders, are found. For example, affected individuals may not be able to open their fists or eyes immediately after closing them tightly for a few seconds.Īffected individuals frequently have excessive sweating (hyperhidrosis), rapid heartbeats (tachycardia) and weight loss. In some instances, muscle relaxation following voluntary muscle movement is delayed (grip myotonia) in the affected muscles. Diminished reflexes are also frequently a sign of this disorder. Muscle activity is constant, and patients describe the feeling of continuous writhing or rippling of muscles under the skin. ![]() ![]() The disorder is characterized by progressive stiffness, cramping, and weakness. There may be diminished spontaneous gross motor activity. ![]() Other symptoms may include staggering and reeling (titubation), stiffness, and lack of balance in response to being startled. Affected individuals may, at times, be unable to coordinate voluntary muscle movement and find difficulty in walking (ataxia). Muscle twitching with a rippling appearance (myokymia) may occur along with these symptoms.
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