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 language | English |
|---|---|
| Article number | e10785 |
| Journal | Medicine |
| Volume | 97 |
| Issue number | 22 |
| DOIs | |
| Publication status | Published - Jun 2018 |
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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 journal › Article
}
TY - JOUR
T1 - A case report of recessive myotonia congenita and early onset cognitive impairment
T2 - Is it a causal or casual link?
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
PY - 2018/6
Y1 - 2018/6
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.
KW - Brain/diagnostic imaging
KW - Chloride Channels/genetics
KW - Cognitive Dysfunction/diagnosis
KW - Electromyography/methods
KW - Genetic Testing/methods
KW - Humans
KW - Magnetic Resonance Imaging/methods
KW - Male
KW - Middle Aged
KW - Muscle Weakness/diagnosis
KW - Muscle, Skeletal/diagnostic imaging
KW - Muscular Atrophy/diagnosis
KW - Mutation
KW - Myotonia Congenita/complications
KW - Phenotype
U2 - 10.1097/MD.0000000000010785
DO - 10.1097/MD.0000000000010785
M3 - Article
C2 - 29851785
VL - 97
JO - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
JF - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
SN - 0025-7974
IS - 22
M1 - e10785
ER -