Nota Clínica

Early onset adhalinopathy (lgmd2d) mimicking congenital muscular dystrophy

M. Castro-Gago, M.I. Novo-Rodríguez, E. Pintos-Martínez, P. Gallano, J. Eirís-Puñal [REV NEUROL 2001;32:631-635] PMID: 11391490 DOI: https://doi.org/10.33588/rn.3207.2000511

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Volumen 32 | Number 07 | Nº of views of the article 6.557 | Nº of PDF downloads 257 | Article publication date 16/04/2001

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ABSTRACT

INTRODUCTION The recent discovery of the dystrophinassociated complex of glycoproteins led to the delineation of sarcoglycanopathies, a phenotypically similar to dystrophinopathies group of clinically heterogeneous and progressive muscular dystrophies. The objective of this paper is to report the clinical, biochemical, histological, immunohistochemical and molecular genetics characteristics observed in a case of adhalinopathy (alphasarcoglycanopathy or LGMD2D) presenting in early months of life and resembling congenital muscular dystrophy. CLINICAL CASE. An 12years old school boy, the third son of a healthy, young, non consanguineous couple, presented at birth with bilateral cleft lip, cleft palate and mild hypotonia. At age 6 months it was believed he suffered from a benign form of congenital muscular dystrophy on the basis of clinical, biochemical, electrophysiological and histological findings. From 5 years onwards he had frequent falls and climbing stairs had become increasingly difficult. Also, a positive Gowers’ sign, mild calf hypertrophy, high serum creatin-phosphokinase level and myopathic electromyographic features were present; otherwise, cardiological evaluation and intelligence were normal. A repeated muscular biopsy at 10 years showed dystrophic features as well as selective deficiency of adhalin on immunostaining. DNA analysis demonstrated the patient being homozygote for a R77C mutation. Actually, a marked lumbar lordosis and wadding gait, an impossibility of climbing stairs and arising from the floor in addition to absent rotulian reflexes and mild Achilles retraction are present.

CONCLUSIONS LGMD2D may present in the firsts months of life mimicking congenital muscular dystrophy. It seems reasonable that biopsies of all new cases of muscular dystrophies be selectively immohistochemical analyzed, and when it is possible the diagnosis should be confirmed by DNA analysis. KeywordsAlphasarcoglycanopathy Congenital muscular dystrophy Dystrophinopathy Progressive muscular dystrophy Sarcoglycanopathy CategoriesNervios periféricos, unión neuromuscular y músculo

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Nota Clínica

Early onset adhalinopathy (lgmd2d) mimicking congenital muscular dystrophy

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