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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
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SEPT9 (17q25.3)
OMIM®: 162100

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

Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Congenital Abnormality
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Low set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Sign or Symptom
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include . - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.
Sleep disturbance
MedGen UID:
52372
Concept ID:
C0037317
Sign or Symptom
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Axonal degeneration
MedGen UID:
332464
Concept ID:
C1837496
Finding
Brachial plexus neuropathy
MedGen UID:
851687
Concept ID:
CN232999
Finding
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Disease or Syndrome
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Denervation atrophy of muscle
MedGen UID:
78748
Concept ID:
C0270948
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Abnormal results of investigations using electromyography (EMG).
Joint pain
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Disease or Syndrome
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Microstomia
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
Cleft lip/palate
MedGen UID:
57640
Concept ID:
C0158646
Finding
Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the palate. With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Congenital Abnormality
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
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).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Anatomical Abnormality
Congenital or acquired asymmetry of the face.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Disease or Syndrome
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.

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. [Epub ahead of print] PMID: 20512157Free PMC Article

Recent clinical studies

Etiology

Arányi Z, Csillik A, Dévay K, Rosero M, Barsi P, Böhm J, Schelle T
Muscle Nerve 2015 Oct;52(4):503-11. Epub 2015 Aug 21 doi: 10.1002/mus.24615. [Epub ahead of print] PMID: 25703205
Fransz DP, Schönhuth CP, Postma TJ, van Royen BJ
BMC Musculoskelet Disord 2014 Aug 7;15:265. doi: 10.1186/1471-2474-15-265. [Epub ahead of print] PMID: 25098693Free PMC Article
Pan YW, Wang S, Tian G, Li C, Tian W, Tian M
J Hand Surg Am 2011 Jul;36(7):1197-203. Epub 2011 May 24 doi: 10.1016/j.jhsa.2011.03.041. [Epub ahead of print] PMID: 21601996
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 Engelen BG
Brain 2006 Feb;129(Pt 2):438-50. Epub 2005 Dec 21 doi: 10.1093/brain/awh722. [Epub ahead of print] PMID: 16371410

Diagnosis

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
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. [Epub ahead of print] 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. [Epub ahead of print] 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
Sahoo S, Bandyopadhyay A, Mahapatra NC
Indian J Pediatr 2013 May;80(5):428-9. Epub 2012 Jan 10 doi: 10.1007/s12098-011-0676-6. [Epub ahead of print] PMID: 22231775
Shaikh MF, Baqai TJ, Tahir H
BMJ Case Rep 2012 Nov 28;2012 doi: 10.1136/bcr-2012-007673. PMID: 23192585Free PMC Article
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

Prognosis

Van Eijk JJ, Groothuis JT, Van Alfen N
Muscle Nerve 2016 Mar;53(3):337-50. Epub 2016 Jan 20 doi: 10.1002/mus.25008. [Epub ahead of print] PMID: 26662794
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. [Epub ahead of print] PMID: 22850488
Barraclough A, Triplett J, Tuch P
J Clin Neurosci 2012 Sep;19(9):1301-2. Epub 2012 Jun 20 doi: 10.1016/j.jocn.2011.12.009. [Epub ahead of print] PMID: 22721897
van Alfen N
Nat Rev Neurol 2011 May 10;7(6):315-22. doi: 10.1038/nrneurol.2011.62. [Epub ahead of print] PMID: 21556032
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374

Clinical prediction guides

Van Eijk JJ, Groothuis JT, Van Alfen N
Muscle Nerve 2016 Mar;53(3):337-50. Epub 2016 Jan 20 doi: 10.1002/mus.25008. [Epub ahead of print] PMID: 26662794
Fransz DP, Schönhuth CP, Postma TJ, van Royen BJ
BMC Musculoskelet Disord 2014 Aug 7;15:265. doi: 10.1186/1471-2474-15-265. [Epub ahead of print] PMID: 25098693Free PMC Article
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. [Epub ahead of print] PMID: 22850488
Abid A, Accadbled F, Louis D, Kany J, Knörr J, Cahuzac JP, de Gauzy JS
J Pediatr Orthop B 2012 Jul;21(4):305-9. doi: 10.1097/BPB.0b013e328353688e. PMID: 22525453
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374

Recent systematic reviews

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22850488
Salt E, Wright C, Kelly S, Dean A
Man Ther 2011 Feb;16(1):53-65. Epub 2010 Nov 12 doi: 10.1016/j.math.2010.09.005. [Epub ahead of print] PMID: 21075037
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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