Kugelberg-welander syndrome (juvenile muscular atrophy) 6

General: Autosomal recessive; juvenile spinal muscular atrophy; affects both sexes; onset in late 636f54g childhood or adolescence.

Ocular: Ptosis; ophthalmoplegia; exotropia; orbicularis oculi paresis.

Clinical: Slowly progressive proximal muscle atrophy; lower extremities usually are affected first, with the upper limbs being affected late; frequently, fasciculation; proximal muscle weakness, especially of the lower extremities; elevated serum creatine kinase levels.

Dorsher PT, et al. Wohlfart-Kugelberg-Welander syndrome: serum creatine kinase and functional outcome. Arch Phys Med Rehab 1991; 72:587-591.

Kugelberg E, Welander L. Familial neurogenic muscular atrophy simulating ordinary proximal dystrophy. Acta Psychiatr 1954; 29:42-43.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Menkes JH. Diseases of the motor unit. In: Menkes JH, ed. Textbook of child neurology, 5^th Ed. Philadelphia: Williams & Wilkins, 1995:815-820.

Rowland LP. Progressive spinal muscular atrophies of childhood. In: Rowland LP, ed. Merritts Textbook of Neurology, 9^th ed. Philadelphia: Williams & Wilkins, 1995:743,

Urbanek KO, Chudackova J, Veliskova J. ACTH and steroids in Kugelberg- Welander disease, Acta Univ Pallacki Olomuc Fac Med 1990; 126:147-l50.

Wollar PH, Reece JM. Ocular findings in a patient with Kugelberg- Welander syndrome: a case report. J Pediatr Ophthalmol Strabismus 1978; 15:15-l8.