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]
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]
Autosomal Recessive Spinocerebellar Ataxia 8
[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com]
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]
Autosomal Dominant Spastic Ataxia Type 1
[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com]
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]
Autosomal Recessive Spinocerebellar Ataxia Type 17
[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com]
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]
myokymia; thus, the denomination of FDFM was misleading.[movementdisorders.org]
X-Linked Spinocerebellar Ataxia Type 5
[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com]
[…] 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]
Spinocerebellar Ataxia with Axonal Neuropathy
[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com]
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]
[…] syndrome KCNC1 Epilepsy, progressive myoclonic KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal[genda.com.ar]
Autosomal Recessive Spinocerebellar 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.medscape.com]
[…] 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]
Myokymia, vertigo, or hearing loss may occur in some of the subtypes.[blueprintgenetics.com]
Adult-Onset Autosomal Recessive Cerebellar 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.medscape.com]
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]
Cerebellar Ataxia with Peripheral Neuropathy Type 2
[…] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com]
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]
There is no interictal myokymia but gaze-evoked nystagmus is seen.[jpgmonline.com]