Amyotrophy, Hereditary Neuralgic malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases
Aliases & Descriptions for Amyotrophy, Hereditary Neuralgic:
Orphanet epidemiological data:52
brachial plexus neuritis:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (United States),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy
amyotrophy, hereditary neuralgic:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Immune diseases
Rare neurological diseases
NIH Rare Diseases:46 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. last updated: 5/18/2011
MalaCards based summary: Amyotrophy, Hereditary Neuralgic, also known as hereditary neuralgic amyotrophy, is related to amyotrophic neuralgia and parsonage turner syndrome, and has symptoms including polyneuropathy, muscle weakness and arthralgia. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPT9 (Septin 9). Affiliated tissues include skeletal muscle and eye.
Genetics Home Reference:24 Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.
OMIM:50 Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized... (162100) more...
UniProtKB/Swiss-Prot:68 Hereditary neuralgic amyotrophy: Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition.
Wikipedia:69 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...
GeneReviews summary for NBK1395
Symptoms by clinical synopsis from OMIM:162100
Clinical features from OMIM:162100
Symptoms:52 (show all 16)
HPO human phenotypes related to Amyotrophy, Hereditary Neuralgic:(show all 32)
UMLS symptoms related to Amyotrophy, Hereditary Neuralgic:pain
MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:34
Skeletal muscle, Eye
UniProtKB/Swiss-Prot genetic disease variations for Amyotrophy, Hereditary Neuralgic:68
Clinvar genetic disease variations for Amyotrophy, Hereditary Neuralgic:5
Search GEO for disease gene expression data for Amyotrophy, Hereditary Neuralgic.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet