Question: What is (are) Juvenile primary lateral sclerosis ?
Answer: Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.
Source: GARD

Question: What are the symptoms of Juvenile primary lateral sclerosis ?
Answer: What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile primary lateral sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Muscle weakness 90% Pseudobulbar signs 90% Feeding difficulties in infancy 50% Neurological speech impairment 50% Abnormality of the urinary system 7.5% Skeletal muscle atrophy 7.5% Abnormal upper motor neuron morphology - Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Childhood onset - Difficulty in tongue movements - Dysphagia - Juvenile onset - Pseudobulbar behavioral symptoms - Saccadic smooth pursuit - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - Spasticity of facial muscles - Spasticity of pharyngeal muscles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Juvenile primary lateral sclerosis ?
Answer: What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.
Source: GARD

Question: Is Juvenile primary lateral sclerosis inherited ?
Answer: How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GARD