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Paramyotonia congenita of Von Eulenburg(PMC)

MedGen UID:
113142
Concept ID:
C0221055
Disease or Syndrome
Synonyms: Eulenburg disease; Myotonia congenita intermittens; Paralysis periodica paramyotonica; Paramyotonia congenita; Von Eulenburg paramyotonia congenita
SNOMED CT: Eulenburg's disease (41574007); Eulenburg disease (41574007); Paramyotonia congenita (41574007); Eulenburg syndrome (41574007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SCN4A (17q23.3)
 
Monarch Initiative: MONDO:0008195
OMIM®: 168300
Orphanet: ORPHA684

Definition

Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992). [from OMIM]

Additional description

From MedlinePlus Genetics
Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.

Most people—even those without muscle disease—feel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.  https://medlineplus.gov/genetics/condition/paramyotonia-congenita

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Muscle stiffness
MedGen UID:
113151
Concept ID:
C0221170
Sign or Symptom
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Percussion myotonia
MedGen UID:
148293
Concept ID:
C0751359
Finding
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
Handgrip myotonia
MedGen UID:
357016
Concept ID:
C1868623
Finding
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Paradoxical myotonia
MedGen UID:
868774
Concept ID:
C4023179
Disease or Syndrome
A type of myotonia that worsens with repeated muscle contractions.
Inspiratory stridor
MedGen UID:
146165
Concept ID:
C0677600
Sign or Symptom
Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParamyotonia congenita of Von Eulenburg

Professional guidelines

PubMed

Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E
Neurologia (Engl Ed) 2020 Apr;35(3):185-206. Epub 2019 Apr 16 doi: 10.1016/j.nrl.2019.01.001. PMID: 31003788

Recent clinical studies

Diagnosis

Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S
Arch Neurol 1999 Jun;56(6):692-6. doi: 10.1001/archneur.56.6.692. PMID: 10369308

Prognosis

Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S
Arch Neurol 1999 Jun;56(6):692-6. doi: 10.1001/archneur.56.6.692. PMID: 10369308

Clinical prediction guides

Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S
Arch Neurol 1999 Jun;56(6):692-6. doi: 10.1001/archneur.56.6.692. PMID: 10369308

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