Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal dominant
17q25.3
Hereditary neuralgic amyotrophy (HNA) is an 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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 162100.1.1 | Lebanon | Female | Yes | Yes | Amyotrophy involving the shoulder muscul... Amyotrophy involving the shoulder musculature  | NM_006640.4:c.(22+1_23–1)_(293_668–1)dup | Heterozygous | Autosomal, Dominant | Neubauer et al. 2019 | |
| 162100.1.2 | Lebanon | Male | Yes | Yes | Amyotrophy involving the shoulder muscul... Amyotrophy involving the shoulder musculature | NM_006640.4:c.(22+1_23–1)_(293_668–1)dup | Heterozygous | Autosomal, Dominant | Neubauer et al. 2019 | Sibling of 162100.1.... |
| 162100.1.3 | Lebanon | Male | Yes | Amyotrophy involving the shoulder muscul... Amyotrophy involving the shoulder musculature | NM_006640.4:c.(22+1_23–1)_(293_668–1)dup | Heterozygous | Autosomal, Dominant | Neubauer et al. 2019 | Father of 162100.1.1 |