Myokymia & Onset of Dysarthria in Third Decade of Life: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Myokymia, Onset of Dysarthria in Third Decade of Life,

Negated

None

Unsure

None

Possible Causes

Episodic Ataxia

[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia [emedicine.com]

In addition, myokymia (rippling of muscles, diagnosable by electromyography) is evident during and between attacks. [ncbi.nlm.nih.gov]

All of the affected family members had episodes typically lasting for several hours, and none of them had muscle abnormalities including myokymia. [ncbi.nlm.nih.gov]

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Spinocerebellar Ataxia Type 5

The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood. [ncbi.nlm.nih.gov]

Facial myokymia is a prominent feature among the French kindred. Nystagmus is less prominent than in SCA6 or SCA8. [ataxia.uchicago.edu]

[…] mutation (transition C T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia [ncbi.nlm.nih.gov]

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Autosomal Dominant Spastic Ataxia Type 1

EA Episodic ataxia with myokymia Eam ataxia, episodic, with myokymia AEM Aemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxia Episodic ataxia [diseaseinfosearch.org]

EPISODIC ATAXIA, TYPE 1; EA1 PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY EPISODIC ATAXIA WITH MYOKYMIA; EAM ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK MYOKYMIA WITH PERIODIC [slideshare.net]

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Autosomal Recessive Spinocerebellar Ataxia 8

1 MYOKYMIA 1 WITH HYPOMAGNESEMIA Kv1.5 (K7/45) ATRIAL FIBRILLATION, FAMILIAL, TYPE 7 Laforin (N84/1) PROGRESSIVE MYOCLONIC EPILEPSY, TYPE 2A MMACHC (N230/21) METHYLMALONIC [neuromab.ucdavis.edu]

EA1 may begin in early childhood with attacks of ataxia lasting minutes and with interictal myokymia. [tchain.com]

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Autosomal Recessive Spinocerebellar Ataxia Type 17

myokymia; thus, the denomination of FDFM was misleading. [movementdisorders.org]

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X-Linked Spinocerebellar Ataxia Type 5

[…] homolog of potassium channel, voltage-gated, shaker-related subfamily, member 1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia [ukgtn.nhs.uk]

[…] nystagmus, limb spasticity, limb and gait ataxia, and diminished vibration perception Progression generally slow Spinocerebellar ataxia 10 See the list below: Clinical features Onset [emedicine.medscape.com]

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Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

Myokymia, vertigo, or hearing loss may occur in some of the subtypes. [blueprintgenetics.com]

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Spinocerebellar Ataxia with Axonal Neuropathy

[…] syndrome KCNC1 Epilepsy, progressive myoclonic KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal [genda.com.ar]

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Autosomal Recessive Spinocerebellar Ataxia

Myokymia, vertigo, or hearing loss may occur in some of the subtypes. [blueprintgenetics.com]

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Cerebellar Ataxia with Peripheral Neuropathy Type 2

There is no interictal myokymia but gaze-evoked nystagmus is seen. [jpgmonline.com]

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Adult-Onset Autosomal Recessive Cerebellar Ataxia

Myokymia, vertigo, or hearing loss may occur in some of the subtypes. [blueprintgenetics.com]

There is no interictal myokymia but gaze-evoked nystagmus is seen. [jpgmonline.com]

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Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

Fatigue Pes cavus Babinski sign Spastic paraplegia Paraplegia Tetraplegia Abnormal caudate nucleus morphology Spastic tetraplegia Resting tremor Diffuse cerebral atrophy Myokymia [mendelian.co]

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Spastic Ataxia with Congenital Miosis

May respond to periodic relaxation of accommodation or reading glasses, or may require cycloplegia Superior oblique myokymia Repetitive firing of superior oblique muscle. [pedseyes.org]

[…] the third to fourth decade of life. [findzebra.com]

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Ataxia

EA1 may begin in early childhood with attacks of ataxia lasting minutes and with interictal myokymia. [dizziness-and-balance.com]

Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. [ghr.nlm.nih.gov]

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Spinocerebellar Ataxia Type 6

Litt MKramer PBrowne D et al A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet. 1994;55:702-709. Google Scholar 9. [doi.org]

Neurol., 1992, vol. 31 (pg. 147 - 154 ) 4 A gene for episodic ataxia/myokymia maps to chromosome 12pl3, Am. J. Hum. [academic.oup.com]

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Spinocerebellar Ataxia Type 12

Moderately severe gait ataxia, moderate degree of intention tremor in upper-limbs, head tremor, dysarthria, and facial myokymia were also noted. [movementdisorders.org]

Difficulty articulating speech 0001260 Dysdiadochokinesis Difficulty performing quick and alternating movements 0002075 Dysmetria Lack of coordination of movement 0001310 Facial myokymia [rarediseases.info.nih.gov]

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Spinocerebellar Ataxia Type 30

Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head [lacaf.org]

The common features of SCA3, which is the most common subtype and called Machado-Joseph disease, are parkinsonism, dystonia, faciolingual myokymia and bulging eyes [ 16, 25 [e-jmd.org]

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Spinocerebellar Ataxia Type 13

[…] anti-Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 10 Antibodies anti-Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 1 (Episodic Ataxia with Myokymia [antibodies-online.com]

Browne DLGancher STNutt JG et al Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. [jamanetwork.com]

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Spinocerebellar Ataxia Type 20

In the second SCA5 family, the picture was similar but included a concomitant slight facial myokymia, increased reflexes and decreased vibration sensation. [brain.oxfordjournals.org]

Purkinje cells, dorsal root sensory ganglion neurons, and ascending posterior columns Spinocerebellar ataxia 5 See the list below: Clinical features Cerebellar ataxia, facial myokymia [emedicine.medscape.com]

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Spinocerebellar Ataxia Type 4

SCA2 is subdivided in Episodic Ataxia Type 1 or EA1 (also named Paroxysmal and Myokymia syndrome) and Episodic Ataxia Type 2 or EA2. [encyclopedia.com]

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Spinocerebellar Ataxia Type 1

Aemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxia EA Episodic ataxia with myokymia Eam ataxia, episodic, with myokymia AEM Episodic ataxia [diseaseinfosearch.org]

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Spinocerebellar Ataxia Type 19

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Spinocerebellar Ataxia Type 23

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Hereditary Orotic Aciduria

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Autosomal Recessive Spinocerebellar Ataxia 3

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Early-Onset Spastic Ataxia - Neuropathy Syndrome

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Spastic Paraplegia - Optic Atrophy - Neuropathy

[…] progressive asymmetrical distal limb weakness with minimal or no sensory impairment later on followed by muscle atrophy (may be accompanied by fasciculations, cramps and myokymia [neuroweb.us]

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Autosomal Dominant Sensory Ataxia

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Vestibulocerebellar Ataxia

[…] weakness Hyperreflexia Pronator drift Primarily PNS Gait abnormality Steppage gait Antalgic gait Primarily muscular Movement disorders Spasm Trismus Fasciculation Fibrillation Myokymia [en.wikipedia.org]

Myokymia, vertigo, or hearing loss may occur in some of the subtypes. [blueprintgenetics.com]

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Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Dystonia, restless leg syndrome, facial-lingual fasciculation-like movements or myokymia, pyramidal signs, lid retraction nystagmus, decreased saccade velocity, amyotrophy [medcraveonline.com]

Continuous myokymia between attacks are charateristic. Kinesigenic provocation (movement, startle or emotion) is common. [neuroweb.us]

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