A severe case of facioscapulohumeral muscular dystrophy (FSHD)

Eur. J. Paediatr. Neurol. · Jan 2004

Case Reports

A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.

Severe and early facioscapulohumeral muscular dystrophy (FSHD) is relatively rare. In this report, we describe a case of severe, infantile onset FSHD in a patient with asymmetric progressive ptosis and early hyperlordosis. DNA analysis revealed a very short 4q35 allele of 8.6 kb and a somatic mosaicism for the 4q35 deletion detected in a subclinically affected parent of the patient. This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder.

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- Małgorzata Dorobek and Dagmara Kabzińska.
- Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego Street, 02-106 Warsaw, Poland. maldor@cmdik.pan.pl
- Eur. J. Paediatr. Neurol. 2004 Jan 1; 8 (6): 313-6.
AbstractSevere and early facioscapulohumeral muscular dystrophy (FSHD) is relatively rare. In this report, we describe a case of severe, infantile onset FSHD in a patient with asymmetric progressive ptosis and early hyperlordosis. DNA analysis revealed a very short 4q35 allele of 8.6 kb and a somatic mosaicism for the 4q35 deletion detected in a subclinically affected parent of the patient. This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder.

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A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.

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