Öz
McArdle’s disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise, along with easy fatigability and weakness after exercise. Following prolonged exertion, contractures, rhabdomyolysis, and myoglobinuria may occur. Central nervous system symptoms have rarely been reported in McArdle disease. In this case report, a 13-year-old boy with epilepsy and McArdle’s disease is presented.
Anahtar Kelimeler
Kaynakça
- DiMauro S, Lamperti C. Muscle glycogenoses. Muscle Nerve. 2001;24:984-9.
- Chiado-Piat L, Mongini T, Doriguzzi C, Maniscalco M, Palmucci L. Clinical spectrum of McArdle disease: three cases with unusual expression. Eur Neurol. 1993;33:208-11.
- Deschauer M, Morgenroth A, Joshi PR, et al. Analysis of spectrum and frequencies of mutations in McArdle disease: identification of 13 novel mutations. J Neurol. 2007;254:797-802.
- Mancuso M, Orsucci D, Volterrani D, Siciliano G. Cognitive impairment and McArdle disease: Is there a link? Neuromuscul Disord. 2011;21:356-8.
- DiMauro S, Bresolin N. Phosphorylase deficiency. In: Engel AG, (ed). Myology. New York: McGraw-Hill; 1986;1585-1601.
- Siciliano G, Rossi B, Martini A, et al. Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy. J Neurol Sci. 1995;128:84-91.
- Taratuto AL, Akman HO, Saccoliti M, et al. Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. Neuromuscul Disord. 2010;20:783-90.
- Walker AR, Tschetter K, Matsuo F, Flanigan KM. McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures. Muscle Nerve. 2003;28:640-3.
- Salvan AM, Vion-Dury J, Confort-Gouny S, Dano P,
- Cozzone PJ. Increased cerebral glycogen detected by localized h-magnetic resonance spectroscopy in a patient with suspected McArdle’s disease. Eur Neurol. 1997;37:251-3.
Öz
McArdle hastalığı, çizgili kasta glikojen fosforilaz enziminin eksikliği sonucu gelişen, otozomal resesif kalitim gösteren bir hastalık olarak tanımlanmaktadır. Hastalar genellikle çabuk yorulma ve egzersiz sonrası güçsüzlük ile birlikte, kas krampları, ağrı ve azalmış egzersiz toleransından yakınırlar. Uzun süreli efor sonrası kontraktür, rabdomiyoliz ve miyoglobinüri oluşabilir. Merkezi sinir sistemi belirtileri McArdle hastalığında nadiren bildirilmiştir. Burada, epilepsi ve McArdle hastalığı olan 13 yaşındaki bir çocuk sunulmuştur
Anahtar Kelimeler
Kaynakça
- DiMauro S, Lamperti C. Muscle glycogenoses. Muscle Nerve. 2001;24:984-9.
- Chiado-Piat L, Mongini T, Doriguzzi C, Maniscalco M, Palmucci L. Clinical spectrum of McArdle disease: three cases with unusual expression. Eur Neurol. 1993;33:208-11.
- Deschauer M, Morgenroth A, Joshi PR, et al. Analysis of spectrum and frequencies of mutations in McArdle disease: identification of 13 novel mutations. J Neurol. 2007;254:797-802.
- Mancuso M, Orsucci D, Volterrani D, Siciliano G. Cognitive impairment and McArdle disease: Is there a link? Neuromuscul Disord. 2011;21:356-8.
- DiMauro S, Bresolin N. Phosphorylase deficiency. In: Engel AG, (ed). Myology. New York: McGraw-Hill; 1986;1585-1601.
- Siciliano G, Rossi B, Martini A, et al. Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy. J Neurol Sci. 1995;128:84-91.
- Taratuto AL, Akman HO, Saccoliti M, et al. Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. Neuromuscul Disord. 2010;20:783-90.
- Walker AR, Tschetter K, Matsuo F, Flanigan KM. McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures. Muscle Nerve. 2003;28:640-3.
- Salvan AM, Vion-Dury J, Confort-Gouny S, Dano P,
- Cozzone PJ. Increased cerebral glycogen detected by localized h-magnetic resonance spectroscopy in a patient with suspected McArdle’s disease. Eur Neurol. 1997;37:251-3.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 8 Ekim 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 40 Sayı: Ek 1 |
