Autosomal recessive axonal neuropathy with neuromyotonia

A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.



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Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 30006059
 Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.
Wang Z, Lin J, Qiao K, Cai S, Zhang VW, Zhao C, Lu J.
Eur J Med Genet. 2019;62(3):190-194.
Progressive distal muscle weakness
HINT1
c|SUB|G|289|A c|SUB|T|112|C;RS#:762701283 p|SUB|C|38|R;RS#:762701283 p|SUB|V|97|M
Adult Congenital Foot Deformity Females Homo sapiens Male Missense Mutation Muscle Weakness Nerve Tissue Proteins Phenotype Syndrome
1
(17.5%)		 26760849
 A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.
Rauchenzauner M, Fruhwirth M, Hecht M, Kofler M, Witsch-Baumgartner M, Fauth C.
Neuropediatrics. 2016;47(2):119-22.
Sensory neuropathy Myotonia
HINT1
c|SUB|G|100|A p|SUB|E|34|K
Child Electromyography Females Genes, Recessive Hereditary Motor and Sensory Neuropathies Homo sapiens Missense Mutation Nerve Tissue Proteins Neurologic Examination
1
(17.5%)		 24131582
 Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
Caetano JS, Costa C, Baets J, Zimon Phd M, Venancio Phd M, Saraiva Phd J, Negrao L, Fineza I.
Pediatr Neurol. 2014;50(1):104-7.
Myotonia
HINT1
c|SUB|C|334|A;RS#:373849532 p|SUB|H|112|N;RS#:373849532
Genes, Recessive Homo sapiens Male Peripheral Nervous System Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 47

HPO ID Term Frequency
HP:0002411 Myokymia Very frequent (99-80%)
HP:0002486 Myotonia Very frequent (99-80%)
HP:0003444 EMG: chronic denervation signs Very frequent (99-80%)
HP:0009053 Distal lower limb muscle weakness Very frequent (99-80%)
HP:0100288 EMG: myokymic discharges Very frequent (99-80%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0001315 Reduced tendon reflexes Frequent (79-30%)
HP:0001760 Abnormality of the foot Frequent (79-30%)
HP:0002359 Frequent falls Frequent (79-30%)
HP:0003236 Elevated serum creatine kinase Frequent (79-30%)
HP:0003438 Absent Achilles reflex Frequent (79-30%)
HP:0003546 Exercise intolerance Frequent (79-30%)
HP:0003710 Exercise-induced muscle cramps Frequent (79-30%)
HP:0007002 Motor axonal neuropathy Frequent (79-30%)
HP:0007178 Motor polyneuropathy Frequent (79-30%)
HP:0007289 Limb fasciculations Frequent (79-30%)
HP:0012899 Handgrip myotonia Frequent (79-30%)
HP:0030198 Fatigable weakness of distal limb muscles Frequent (79-30%)
HP:0001284 Areflexia Occasional (29-5%)
HP:0001371 Flexion contracture Occasional (29-5%)
HP:0001761 Pes cavus Occasional (29-5%)
HP:0001771 Achilles tendon contracture Occasional (29-5%)
HP:0002166 Impaired vibration sensation in the lower limbs Occasional (29-5%)
HP:0002273 Tetraparesis Occasional (29-5%)
HP:0002356 Writer's cramp Occasional (29-5%)
HP:0002505 Progressive inability to walk Occasional (29-5%)
HP:0003376 Steppage gait Occasional (29-5%)
HP:0003390 Sensory axonal neuropathy Occasional (29-5%)
HP:0003401 Paresthesia Occasional (29-5%)
HP:0003409 Distal sensory impairment of all modalities Occasional (29-5%)
HP:0003552 Muscle stiffness Occasional (29-5%)
HP:0003760 Percussion-induced rapid rolling muscle contractions Occasional (29-5%)
HP:0008944 Distal lower limb amyotrophy Occasional (29-5%)
HP:0008954 Intrinsic hand muscle atrophy Occasional (29-5%)
HP:0008991 Exercise-induced leg cramps Occasional (29-5%)
HP:0009005 Weakness of the intrinsic hand muscles Occasional (29-5%)
HP:0009027 Foot dorsiflexor weakness Occasional (29-5%)
HP:0009049 Peroneal muscle atrophy Occasional (29-5%)
HP:0009077 Weakness of long finger extensor muscles Occasional (29-5%)
HP:0009130 Hand muscle atrophy Occasional (29-5%)
HP:0000975 Hyperhidrosis Very rare (4-1%)
HP:0001171 Split hand Very rare (4-1%)
HP:0001256 Intellectual disability, mild Very rare (4-1%)
HP:0001328 Specific learning disability Very rare (4-1%)
HP:0002943 Thoracic scoliosis Very rare (4-1%)
HP:0004686 Short third metatarsal Very rare (4-1%)
HP:0100490 Camptodactyly of finger Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001271 Polyneuropathy 1
HP:0002486 Myotonia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HINT1 histidine triad nucleotide binding protein 1 3094