A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?

Simona Portaro, Alberto Cacciola, Antonino Naro, Demetrio Milardi, Rosa Morabito, Francesco Corallo, Silvia Marino, Alessia Bramanti, Emanuela Mazzon, Rocco Salvatore Calabrò

Research output: Contribution to journalArticle

Abstract

RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear.

PATIENT CONCERNS: A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a cognitive impairment. Notably, his brother presented the same mutation but with a different phenotype, mainly involving cognitive function.

INTERVENTIONS: The patient was submitted to cognitive assessment, needle electromyography, brain and muscle MRI, and genetic analysis.

OUTCOMES: The Milan Overall Dementia Assessment showed short-term memory, verbal fluency and verbal intelligence impairment. His genetic analysis showed a recessive splice-site mutation in the CLCN1 gene (IVS19+2T>A). Muscle MRI revealed a symmetric and bilateral fat infiltration of the tensor of fascia lata, gluteus medius, and gluteus maximus muscles, associated to mild atrophy.

DIAGNOSIS: Recessive myotonia congenita was diagnosed.

LESSONS: Further studies should establish if and to which extent the CLCN1 mutation is responsible for this c MC phenotype, taking into account a gene-gene and /or a gene-environment.

Original languageEnglish
Article numbere10785
JournalMedicine
Volume97
Issue number22
DOIs
Publication statusPublished - Jun 2018

Fingerprint

Myotonia Congenita
Muscles
Mutation
Genes
Myotonia
Fascia Lata
Phenotype
Chloride Channels
Muscular Atrophy
Muscle Weakness
Genetic Association Studies
Electromyography
Intelligence
Short-Term Memory
Cognition
Atrophy
Needles
Dementia
Siblings
Skeletal Muscle

Keywords

  • Brain/diagnostic imaging
  • Chloride Channels/genetics
  • Cognitive Dysfunction/diagnosis
  • Electromyography/methods
  • Genetic Testing/methods
  • Humans
  • Magnetic Resonance Imaging/methods
  • Male
  • Middle Aged
  • Muscle Weakness/diagnosis
  • Muscle, Skeletal/diagnostic imaging
  • Muscular Atrophy/diagnosis
  • Mutation
  • Myotonia Congenita/complications
  • Phenotype

Cite this

A case report of recessive myotonia congenita and early onset cognitive impairment : Is it a causal or casual link? / Portaro, Simona; Cacciola, Alberto; Naro, Antonino; Milardi, Demetrio; Morabito, Rosa; Corallo, Francesco; Marino, Silvia; Bramanti, Alessia; Mazzon, Emanuela; Calabrò, Rocco Salvatore.

In: Medicine, Vol. 97, No. 22, e10785, 06.2018.

Research output: Contribution to journalArticle

Portaro, Simona ; Cacciola, Alberto ; Naro, Antonino ; Milardi, Demetrio ; Morabito, Rosa ; Corallo, Francesco ; Marino, Silvia ; Bramanti, Alessia ; Mazzon, Emanuela ; Calabrò, Rocco Salvatore. / A case report of recessive myotonia congenita and early onset cognitive impairment : Is it a causal or casual link?. In: Medicine. 2018 ; Vol. 97, No. 22.
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abstract = "RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear.PATIENT CONCERNS: A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a cognitive impairment. Notably, his brother presented the same mutation but with a different phenotype, mainly involving cognitive function.INTERVENTIONS: The patient was submitted to cognitive assessment, needle electromyography, brain and muscle MRI, and genetic analysis.OUTCOMES: The Milan Overall Dementia Assessment showed short-term memory, verbal fluency and verbal intelligence impairment. His genetic analysis showed a recessive splice-site mutation in the CLCN1 gene (IVS19+2T>A). Muscle MRI revealed a symmetric and bilateral fat infiltration of the tensor of fascia lata, gluteus medius, and gluteus maximus muscles, associated to mild atrophy.DIAGNOSIS: Recessive myotonia congenita was diagnosed.LESSONS: Further studies should establish if and to which extent the CLCN1 mutation is responsible for this c MC phenotype, taking into account a gene-gene and /or a gene-environment.",
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AU - Portaro, Simona

AU - Cacciola, Alberto

AU - Naro, Antonino

AU - Milardi, Demetrio

AU - Morabito, Rosa

AU - Corallo, Francesco

AU - Marino, Silvia

AU - Bramanti, Alessia

AU - Mazzon, Emanuela

AU - Calabrò, Rocco Salvatore

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N2 - RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear.PATIENT CONCERNS: A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a cognitive impairment. Notably, his brother presented the same mutation but with a different phenotype, mainly involving cognitive function.INTERVENTIONS: The patient was submitted to cognitive assessment, needle electromyography, brain and muscle MRI, and genetic analysis.OUTCOMES: The Milan Overall Dementia Assessment showed short-term memory, verbal fluency and verbal intelligence impairment. His genetic analysis showed a recessive splice-site mutation in the CLCN1 gene (IVS19+2T>A). Muscle MRI revealed a symmetric and bilateral fat infiltration of the tensor of fascia lata, gluteus medius, and gluteus maximus muscles, associated to mild atrophy.DIAGNOSIS: Recessive myotonia congenita was diagnosed.LESSONS: Further studies should establish if and to which extent the CLCN1 mutation is responsible for this c MC phenotype, taking into account a gene-gene and /or a gene-environment.

AB - RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear.PATIENT CONCERNS: A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a cognitive impairment. Notably, his brother presented the same mutation but with a different phenotype, mainly involving cognitive function.INTERVENTIONS: The patient was submitted to cognitive assessment, needle electromyography, brain and muscle MRI, and genetic analysis.OUTCOMES: The Milan Overall Dementia Assessment showed short-term memory, verbal fluency and verbal intelligence impairment. His genetic analysis showed a recessive splice-site mutation in the CLCN1 gene (IVS19+2T>A). Muscle MRI revealed a symmetric and bilateral fat infiltration of the tensor of fascia lata, gluteus medius, and gluteus maximus muscles, associated to mild atrophy.DIAGNOSIS: Recessive myotonia congenita was diagnosed.LESSONS: Further studies should establish if and to which extent the CLCN1 mutation is responsible for this c MC phenotype, taking into account a gene-gene and /or a gene-environment.

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KW - Muscular Atrophy/diagnosis

KW - Mutation

KW - Myotonia Congenita/complications

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