Juvenile Limb-Girdle Myasthenia Gravis

Abstract

Limb-girdle myasthenia is a rare disorder which includes familial and autoimmune forms. Myasthenia gravis is an uncommon disease in children and its diagnosis may be difficult. We report here five cases of autoimmune juvenile LGM starting before the age of 16 years with attention to clinical diagnostic difficulties, evolution, laboratory and instrumental data as well as response to treatment. Diagnosis of limb-girdle myasthenia requires a strong index of suspicion also in childhood. We suggest that this form be suspected in children with unclassifiable myopathy, mostly affecting deltoid muscles and lower extremities.

Key words

Juvenile - limb-girdle myasthenia

References

• 1 Andrews P I, Massey J M, Howard J F, Sanders D B. Race, sex and puberty influence onset, severity and outcome in juvenile myasthenia gravis.  Neurology. 1994;  51 1208-1214
• 2 Andrews P I. A treatment algorithm for autoimmune myasthenia gravis in childhood.  Ann NY Acad Sci. 1998;  841 789-802
• 3 Anlar B, Ozdrim E, Renda Y, Yalaz K, Aysun S, Topcu M. et al . Myasthenia gravis in childood.  Acta Paediatr. 1996;  85 838-842
• 4 Anlar B, Vincent A. Antibodies against muscle-specific kinase in juvenile myasthenia gravis.  Neuropedriatics. 2003;  34 110-111
• 5 Azulay J Ph, Pouget J, Figarella-Branger D, Colamarino R, Pelliser J F. et al . Faiblesse musculaire proximale isolèe rèvèlatrice d’un syndrome myasthènique.  Rev neurol. 1994;  150 377-381
• 6 Batocchi A P, Evoli A, Palmisiani M T, Lo Monaco M, Barroccini M, Tonali P. Early onset myasthenia gravis: clinical characteristics and response to therapy.  Eur J Pediatr. 1990;  150 66-68
• 7 Essa M, Yasser E M, Hariri Z, Al-Mulhim F, Salih M, Ashour M, Al-Kattan K. Maximal thymectomy in children with myasthenia gravis.  Eur J Cardiothorac Surg. 2003;  24 187-191
• 8 Evoli A, Batocchi A P, Bartoccioni E, Lino M M, Minisci C, Tonali P. Juvenile myasthenia gravis with prepubertal onset.  Neuromusc Disord. 1998;  8 561-567
• 9 Furui E, Fukushima K, Sakashita T, Matsubra S S, Takamori M. Familial limb-girdle myasthenia with tubular aggregates.  Muscle Nerve. 1997;  599-603
• 10 McQulillen M P. Familial limb-girdle myasthenia.  Brain. 1966;  89 121-132
• 11 Oh S J, Kuruoglu R. Chronic limb-girdle myasthenia gravis.  Neurology. 1992;  42 1153-1156
• 12 Meriggioli M N, Howard Jr J F, Harper C M. Myasthenia gravis. Meriggioli MN, Howard JF Jr, Harper CM Neuromuscular Junction Disorders. New York; Marcel Dekker Inc 2004: 101-155
• 13 Rodolico C, Toscano A, Autunno M, Messina S, Nicolosi C, Aguennouz M. et al . Limb-girdle myasthenia: Clinical, electrophysiological and morphological feature in familial and autoimmune cases.  Neuromusc Disord. 2002;  12 964-969
• 14 Ramelli G P, Sturzenegger M, Bianchetti M G, Vassella F. Thymectomy in children with generalized myasthenia gravis.  Eur J Cardiothorac Surg. 1995;  9 461-464
• 15 Sieb J P, Tolksdorf K, Dengler R, Jerusalem F. Autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family.  Neuromuscul Disord. 1996;  6 115-119
• 16 Snead 3rd O C. Juvenile myasthenia gravis.  Neurology. 1980;  30 732-739
• 17 Vasant A, Taly A B, Sathynarayanaswamy H. Limb girdle myasthenia: a study of familial and sporadic cases.  J Assoc Phisician India. 1994;  42 601-603
• 18 Vial C, Charles N, Chauplannaz G, Bady B. Myasthenia gravis in childhood and infancy. Usefulness of electrophysiologic studies.  Arch Neurol. 1991;  48 847-849