Question: What is (are) Hereditary neuralgic amyotrophy ?
Answer: Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms. Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.). Secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Affected members in some families may share additional distinct physical and facial characteristics. Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene. It is inherited in an autosomal dominant fashion.
Source: GARD

Question: What are the symptoms of Hereditary neuralgic amyotrophy ?
Answer: What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. 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) Arthralgia 90% EMG abnormality 90% Muscle weakness 90% Polyneuropathy 90% Paresthesia 50% Sprengel anomaly 50% Acrocyanosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Oral cleft 7.5% Respiratory insufficiency 7.5% Round face 7.5% Short stature 7.5% Sleep disturbance 7.5% Hyporeflexia 5% Autosomal dominant inheritance - Axonal degeneration - Blepharophimosis - Brachial plexus neuropathy - Cleft palate - Deeply set eye - Depressed nasal bridge - Epicanthus - Facial asymmetry - Hypotelorism - Low-set ears - Peripheral neuropathy - Ptosis - Skeletal muscle atrophy - Upslanted palpebral fissure - 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