Childhood-onset nemaline myopathy

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 23650303
 Nemaline myopathy with dilated cardiomyopathy in childhood.
Gatayama R, Ueno K, Nakamura H, Yanagi S, Ueda H, Yamagishi H, Yasui S.
Pediatrics. 2013;131(6):e1986-90.
Cardiomyopathy
ACTA1
rs1553255354 rs1553255501 rs587777354
Cardiomyopathy, Dilated Child Differential Diagnosis Homo sapiens Male Myopathies, Nemaline
        

Phenotype(s) retrieved from Orphanet

    Total: 46

HPO ID Term Frequency
HP:0003198 Myopathy Very frequent (99-80%)
HP:0003458 EMG: myopathic abnormalities Very frequent (99-80%)
HP:0003798 Nemaline bodies Very frequent (99-80%)
HP:0001265 Hyporeflexia Frequent (79-30%)
HP:0001270 Motor delay Frequent (79-30%)
HP:0002067 Bradykinesia Frequent (79-30%)
HP:0002068 Neuromuscular dysphagia Frequent (79-30%)
HP:0002312 Clumsiness Frequent (79-30%)
HP:0002355 Difficulty walking Frequent (79-30%)
HP:0003306 Spinal rigidity Frequent (79-30%)
HP:0003546 Exercise intolerance Frequent (79-30%)
HP:0003552 Muscle stiffness Frequent (79-30%)
HP:0003557 Increased variability in muscle fiber diameter Frequent (79-30%)
HP:0003690 Limb muscle weakness Frequent (79-30%)
HP:0003803 Type 1 muscle fiber predominance Frequent (79-30%)
HP:0009055 Generalized limb muscle atrophy Frequent (79-30%)
HP:0009058 Increased muscle lipid content Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000275 Narrow face Occasional (29-5%)
HP:0000276 Long face Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000467 Neck muscle weakness Occasional (29-5%)
HP:0000774 Narrow chest Occasional (29-5%)
HP:0001284 Areflexia Occasional (29-5%)
HP:0001290 Generalized hypotonia Occasional (29-5%)
HP:0001349 Facial diplegia Occasional (29-5%)
HP:0001371 Flexion contracture Occasional (29-5%)
HP:0001533 Slender build Occasional (29-5%)
HP:0001623 Breech presentation Occasional (29-5%)
HP:0001638 Cardiomyopathy Occasional (29-5%)
HP:0001761 Pes cavus Occasional (29-5%)
HP:0001989 Fetal akinesia sequence Occasional (29-5%)
HP:0002483 Bulbar signs Occasional (29-5%)
HP:0002515 Waddling gait Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002747 Respiratory insufficiency due to muscle weakness Occasional (29-5%)
HP:0002792 Reduced vital capacity Occasional (29-5%)
HP:0003691 Scapular winging Occasional (29-5%)
HP:0008180 Mildly elevated creatine kinase Occasional (29-5%)
HP:0011968 Feeding difficulties Occasional (29-5%)
HP:0030192 Fatigable weakness of bulbar muscles Occasional (29-5%)
HP:0000508 Ptosis Very rare (4-1%)
HP:0001561 Polyhydramnios Very rare (4-1%)
HP:0002804 Arthrogryposis multiplex congenita Very rare (4-1%)
HP:0007010 Poor fine motor coordination Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001638 Cardiomyopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 7

Gene Symbol Gene Name Entrez Gene ID
TPM2 tropomyosin 2 7169
MYPN myopalladin 84665
ACTA1 actin alpha 1, skeletal muscle 58
TPM3 tropomyosin 3 7170
NEB nebulin 4703
KBTBD13 kelch repeat and BTB domain containing 13 390594
KLHL41 kelch like family member 41 10324