Amyotrophy, Hereditary Neuralgic; Hna

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Amyotrophy, Hereditary Neuralgic; Hna

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain
  • Ptosis
  • Low-set ears
  • Flexion contracture
  • Depressed nasal bridge
  • Epicanthus

And another 38 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Amyotrophy, Hereditary Neuralgic; Hna Is also known as neuritis with brachial predilection, napb, amyotrophy, hereditary neuralgic, with predilection for brachial plexus, brachial plexus neuropathy, hereditary.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Amyotrophy, Hereditary Neuralgic; Hna Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Hereditary Neuralgic Amyotrophy.

By Baylor Miraca Genetics Laboratories (United States).

SEPT9
Specificity
100 %
Genes
100 %
SEPT9 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SEPT9
Specificity
100 %
Genes
100 %
SEPT9 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SEPT9
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth.

By Human Genetics University Hospital Bern (Switzerland).

YARS, PRX, BSCL2, GDAP1, LITAF, FIG4, FGD4, SBF2, CTDP1, SH3TC2, DNM2, EGR2, GARS, GJB1, MPZ, SEPT9, MTMR2, NDRG1, NEFL, PDK3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
SEPT9. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SEPT9
Specificity
100 %
Genes
100 %
SEPT9. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SEPT9
Specificity
100 %
Genes
100 %
Amyotrophy hereditary neuralgic (sequence analysis of SEPT9 gene).

By CGC Genetics (Portugal).

SEPT9
Specificity
100 %
Genes
100 %

You can get up to 23 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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