Progressive Muscular Atrophy with Hypokalemic Periodic Paralysis: A Case Report
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Progressive muscular atrophy (PMA) is a rare disease involving lower motor neuron degeneration. Hypokalemic periodic paralysis (HypoPP) is a genetic disorder that causes temporary muscle paralysis due to decreased serum potassium levels. Mutations in the CACNA1S gene cause HypoPP. An altered locus closely linked near the CACNA1S gene suggests the possibility of motor neuron degeneration. However, PMA with HypoPP is very rare worldwide because HypoPP usually causes progressive muscle weakness involving a form of myopathy without motor neuron disease. In this report, we describe the case of a 64-year-old man who initially complained of weakness in only the left lower extremity, which subsequently progressed bilaterally. Hence, the patient was diagnosed with PMA with HypoPP based on serial electromyography and the presence of a CACNA1S mutation. Therefore, serial electromyography is necessary for middle-aged patients with progressive muscle weakness and a history of HypoPP.
Abstract
Progressive muscular atrophy (PMA) is a rare disease involving lower motor neuron degeneration. Hypokalemic periodic paralysis (HypoPP) is a genetic disorder that causes temporary muscle paralysis due to decreased serum potassium levels. Mutations in the CACNA1S gene cause HypoPP. An altered locus closely linked near the CACNA1S gene suggests the possibility of motor neuron degeneration. However, PMA with HypoPP is very rare worldwide because HypoPP usually causes progressive muscle weakness involving a form of myopathy without motor neuron disease. In this report, we describe the case of a 64-year-old man who initially complained of weakness in only the left lower extremity, which subsequently progressed bilaterally. Hence, the patient was diagnosed with PMA with HypoPP based on serial electromyography and the presence of a CACNA1S mutation. Therefore, serial electromyography is necessary for middle-aged patients with progressive muscle weakness and a history of HypoPP.
참고문헌 (10)
- Liewluck T, "Progressive muscular atrophy", Neurol Clin, 33, pp.761~773 (2015)
- Kim WK, "Study of 962 patients indicates progressive muscular atrophy is a form of ALS", Neurology, 73, pp.1686~1692 (2009)
- Ahlawat SK, "Hypokalaemic paralysis", Postgrad Med J, 75, pp.193~197 (1999)
- Pearson CM, "The periodic paralyses : differential features and pathological observations in permanent myopathic weakness", Brain, 87, pp.341~354 (1964)
- Links TP, "Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects", J Neurol Sci, 122, pp.33~43 (1994)
- Delaney JF, "Progressive spinal muscular atrophy in a case of hypokalamic periodic paralysis", Dis Nerv Syst, 36, pp.678~680 (1975)
- Sperfeld AD, "X-linked bulbospinal neuronopathy : Kennedy disease", Arch Neurol, 59, pp.1921~1926 (2002)
- Meyer T, "Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation", Muscle Nerve, 37, pp.120~124 (2008)
- Riku Y, "Differential motor neuron involvement in progressive muscular atrophy : a comparative study with amyotrophic lateral sclerosis", BMJ Open, 4, pp.e005213~ (2014)
- Statland JM, "Review of the diagnosis and treatment of periodic paralysis", Muscle Nerve, 57, pp.522~530 (2018)