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Amyotrophy, hereditary neuralgic(HNA)

MedGen UID:
320318
Concept ID:
C1834304
Disease or Syndrome
Synonyms: Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Brachial plexus neuropathy, hereditary; HNA; Neuritis with brachial predilection
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
 
Gene (location): SEPT9 (17q25.3)
OMIM®: 162100
Orphanet: ORPHA2901

Disease characteristics

Excerpted from the GeneReview: Hereditary Neuralgic Amyotrophy
Hereditary neuralgic amyotrophy (HNA) is characterized by sudden onset of severe, non-abating pain in the shoulder girdle and/or the upper limb and amyotrophy (muscle wasting or atrophy) that typically develops within two weeks of the onset of severe pain. Other sites may also be involved in an attack; sensory symptoms, present in the majority of affected individuals, can include hypoesthesia (decreased sensation) and paresthesias. Onset is typically in the second or third decade (median age 28 years). Although attacks appear to become less frequent with age, residual deficits accumulate with subsequent attacks. In some families, non-neurologic findings (characteristic craniofacial features, bifid uvula or cleft palate, short stature, and/or partial syndactyly of the fingers or toes) are present. [from GeneReviews]
Authors:
Nens van Alfen  |  Mark C Hannibal  |  Phillip F Chance, et. al.   view full author information

Additional descriptions

From OMIM
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.  http://www.omim.org/entry/162100
From GHR
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.People with hereditary neuralgic amyotrophy usually begin experiencing attacks in their twenties, but episodes have occurred as early as the age of 1 year in some individuals. The attacks may be spontaneous or triggered by stress such as strenuous exercise, childbirth, surgery, exposure to cold, infections, immunizations, or emotional disturbance. While the frequency of the episodes tends to decrease with age, affected individuals are often left with residual problems, such as chronic pain and impaired movement, that accumulate over time.Typically an attack begins with severe pain on one or both sides of the body; right-sided involvement is most common. The pain may be difficult to control with medication and usually lasts about a month. Within a period of time ranging from a few hours to a couple of weeks, the muscles in the affected area begin to weaken and waste away (atrophy), and movement becomes difficult. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a common sign known as scapular winging. Additional features of hereditary neuralgic amyotrophy may include decreased sensation (hypoesthesia) and abnormal sensations in the skin such as numbness or tingling (paresthesias). Areas other than the shoulder and arm may also be involved.In a few affected families, individuals with hereditary neuralgic amyotrophy also have unusual physical characteristics including short stature, excess skin folds on the neck and arms, an opening in the roof of the mouth (cleft palate), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and partially webbed or fused fingers or toes (partial syndactyly). They may also have distinctive facial features including eyes set close together (ocular hypotelorism), a narrow opening of the eyelids (short palpebral fissures) with a skin fold covering the inner corner of the eye (epicanthal fold), a long nasal bridge, a narrow mouth, and differences between one side of the face and the other (facial asymmetry).  https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy

Clinical features

Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Brachial plexus neuropathy
MedGen UID:
148580
Concept ID:
C0700251
Disease or Syndrome
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Axonal degeneration
MedGen UID:
332464
Concept ID:
C1837496
Finding
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmyotrophy, hereditary neuralgic

Professional guidelines

PubMed

Aretz S, Rautenstrauss B, Timmerman V
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 May 26 doi: 10.1038/ejhg.2010.75. PMID: 20512157Free PMC Article

Recent clinical studies

Etiology

Sumner AJ
Neurosurgery 2009 Oct;65(4 Suppl):A150-2. doi: 10.1227/01.NEU.0000345355.59438.D1. PMID: 19927060
van Alfen N, van Engelen BG, Hughes RA
Cochrane Database Syst Rev 2009 Jul 8;(3):CD006976. doi: 10.1002/14651858.CD006976.pub2. PMID: 19588414
van Alfen N, van der Werf SP, van Engelen BG
Arch Phys Med Rehabil 2009 Mar;90(3):435-9. doi: 10.1016/j.apmr.2008.08.216. PMID: 19254608
Schollen W, Degreef I, De Smet L
Acta Orthop Belg 2007 Jun;73(3):315-8. PMID: 17715720
van Alfen N, van Engelen BG
Brain 2006 Feb;129(Pt 2):438-50. Epub 2005 Dec 21 doi: 10.1093/brain/awh722. PMID: 16371410

Diagnosis

Seror P
Joint Bone Spine 2017 Mar;84(2):153-158. Epub 2016 Jun 2 doi: 10.1016/j.jbspin.2016.03.005. PMID: 27263426
Minas V, Aust T
J Minim Invasive Gynecol 2013 Nov-Dec;20(6):891-3. doi: 10.1016/j.jmig.2013.02.003. PMID: 24183278
Leshinsky-Silver E, Ginzberg M, Dabby R, Sadeh M, Lev D, Lerman-Sagie T
Eur J Paediatr Neurol 2013 Jan;17(1):64-7. Epub 2012 Sep 13 doi: 10.1016/j.ejpn.2012.08.006. PMID: 22981636
Finney KA, David L
Int J STD AIDS 2012 Feb;23(2):143-4. doi: 10.1258/ijsa.2011.011176. PMID: 22422693
van Alfen N
Nat Rev Neurol 2011 May 10;7(6):315-22. doi: 10.1038/nrneurol.2011.62. PMID: 21556032

Therapy

Robinson M, Fulcher M
BMJ Case Rep 2014 Mar 4;2014 doi: 10.1136/bcr-2013-203126. PMID: 24596414Free PMC Article
Minas V, Aust T
J Minim Invasive Gynecol 2013 Nov-Dec;20(6):891-3. doi: 10.1016/j.jmig.2013.02.003. PMID: 24183278
van Alfen N, van Engelen BG, Hughes RA
Cochrane Database Syst Rev 2009 Jul 8;(3):CD006976. doi: 10.1002/14651858.CD006976.pub2. PMID: 19588414
Debeer P, De Munter P, Bruyninckx F, Devlieger R
Vaccine 2008 Aug 18;26(35):4417-9. Epub 2008 Jul 3 doi: 10.1016/j.vaccine.2008.06.074. PMID: 18602437
van Alfen N, van Engelen BG
Brain 2006 Feb;129(Pt 2):438-50. Epub 2005 Dec 21 doi: 10.1093/brain/awh722. PMID: 16371410

Prognosis

Cup EH, Ijspeert J, Janssen RJ, Bussemaker-Beumer C, Jacobs J, Pieterse AJ, van der Linde H, van Alfen N
Arch Phys Med Rehabil 2013 Jan;94(1):67-73. Epub 2012 Jul 28 doi: 10.1016/j.apmr.2012.07.014. PMID: 22850488
van Alfen N
Nat Rev Neurol 2011 May 10;7(6):315-22. doi: 10.1038/nrneurol.2011.62. PMID: 21556032
Schollen W, Degreef I, De Smet L
Acta Orthop Belg 2007 Jun;73(3):315-8. PMID: 17715720
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374
van Alfen N, van Engelen BG
Brain 2006 Feb;129(Pt 2):438-50. Epub 2005 Dec 21 doi: 10.1093/brain/awh722. PMID: 16371410

Clinical prediction guides

Cup EH, Ijspeert J, Janssen RJ, Bussemaker-Beumer C, Jacobs J, Pieterse AJ, van der Linde H, van Alfen N
Arch Phys Med Rehabil 2013 Jan;94(1):67-73. Epub 2012 Jul 28 doi: 10.1016/j.apmr.2012.07.014. PMID: 22850488
Schollen W, Degreef I, De Smet L
Acta Orthop Belg 2007 Jun;73(3):315-8. PMID: 17715720
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374
Jeannet PY, Watts GD, Bird TD, Chance PF
Neurology 2001 Dec 11;57(11):1963-8. PMID: 11739810
van Alfen N, van Engelen BG, Reinders JW, Kremer H, Gabreëls FJ
Brain 2000 Apr;123 ( Pt 4):718-23. PMID: 10734003

Recent systematic reviews

Basson A, Olivier B, Ellis R, Coppieters M, Stewart A, Mudzi W
JBI Database System Rev Implement Rep 2015 Jan;13(1):65-75. doi: 10.11124/jbisrir-2015-1401. PMID: 26447008
Hill LJ, Jelsing EJ, Terry MJ, Strommen JA
PM R 2014 Sep;6(9):774-80. Epub 2014 Feb 14 doi: 10.1016/j.pmrj.2014.02.003. PMID: 24534100
Cup EH, Ijspeert J, Janssen RJ, Bussemaker-Beumer C, Jacobs J, Pieterse AJ, van der Linde H, van Alfen N
Arch Phys Med Rehabil 2013 Jan;94(1):67-73. Epub 2012 Jul 28 doi: 10.1016/j.apmr.2012.07.014. PMID: 22850488
van Alfen N, van Engelen BG, Hughes RA
Cochrane Database Syst Rev 2009 Jul 8;(3):CD006976. doi: 10.1002/14651858.CD006976.pub2. PMID: 19588414
Kuhlenbäumer G, Stögbauer F, Timmerman V, De Jonghe P
Neuromuscul Disord 2000 Oct;10(7):515-7. PMID: 10996784

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