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Amyotrophic neuralgia(NAPB; HNA)

MedGen UID:
320318
Concept ID:
C1834304
Disease or Syndrome
Synonyms: Amyotrophy, hereditary neuralgic; Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Brachial plexus neuropathy, hereditary; Neuritis with brachial predilection
 
Gene (location): SEPTIN9 (17q25.3)
 
Monarch Initiative: MONDO:0008076
OMIM®: 162100

Definition

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]

Additional description

From MedlinePlus Genetics
Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Pain is felt along the path of one or more nerves (neuralgia) 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 pain episodes in their twenties, but pain episodes have occurred in children as young as 1 year old. The episodes may be spontaneous, or they may be triggered by stress such as strenuous exercise, childbirth, surgery, exposure to cold, infections, immunization, 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; the pain most commonly occurs on the right side of the body. About one-third of individuals with hereditary neuralgic amyotrophy have pain in both shoulders or arms. The pain typically starts out sharp and may become more of an ache over time, and the pain lasts about a month. It may be difficult to control the pain with medication. Over a period of 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 that covers 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://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Brachial plexus neuropathy
MedGen UID:
148580
Concept ID:
C0700251
Disease or Syndrome
A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.
Axonal degeneration
MedGen UID:
332464
Concept ID:
C1837496
Finding
Peripheral axonal degeneration
MedGen UID:
871339
Concept ID:
C4025830
Finding
Progressive deterioration of peripheral axons.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Anatomical Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
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.
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
Finding
An abnormal difference between the left and right sides of the face.
Long nasal bridge
MedGen UID:
331712
Concept ID:
C1834320
Finding
Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.
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.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
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).
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
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).
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
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Professional guidelines

PubMed

Gstoettner C, Mayer JA, Rassam S, Hruby LA, Salminger S, Sturma A, Aman M, Harhaus L, Platzgummer H, Aszmann OC
J Neurol Neurosurg Psychiatry 2020 Aug;91(8):879-888. Epub 2020 Jun 2 doi: 10.1136/jnnp-2020-323164. PMID: 32487526
Expert Panel on Neurologic Imaging:, Bykowski J, Aulino JM, Berger KL, Cassidy RC, Choudhri AF, Kendi AT, Kirsch CFE, Luttrull MD, Sharma A, Shetty VS, Than K, Winfree CJ, Cornelius RS
J Am Coll Radiol 2017 May;14(5S):S225-S233. doi: 10.1016/j.jacr.2017.02.002. PMID: 28473078
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. PMID: 26662794

Curated

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

UK NICE Clinical Guideline CG173, Neuropathic pain in adults: pharmacological management in non-specialist settings, 2020

Recent clinical studies

Prognosis

Rodríguez-Hornillo M, de la Riva MC, Ojeda R
Rev Esp Anestesiol Reanim 2016 Aug-Sep;63(7):427-30. Epub 2016 Mar 3 doi: 10.1016/j.redar.2016.01.007. PMID: 26948383

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2020
      UK NICE Clinical Guideline CG173, Neuropathic pain in adults: pharmacological management in non-specialist settings, 2020
    • EuroGenetest, 2010
      Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

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