Hereditary neuromuscular diseases in paediatrics: 14 years of experience

July 28, 2005

Rev Neurol. 2005 Aug 1-15;41(3):145-50.

Hereditary neuromuscular diseases in paediatrics. Our experience over

the last 14 years.

-Pison J, Rebage V, Baldellou-Vazquez A, Capablo-Liesa JL,

Colomer J, Calvo MT, Saenz de Cabezon A, Alfaro- J, Del Agua C,

Bestue M, Pena-Segura JL.

Hospital Universitario Servet, 50009 Zaragoza, Espana.

INTRODUCTION. Hereditary neuromuscular diseases are disorders which

can vary largely in their age of onset, symptoms and severity. Many

are severe, disabling and have an important personal, familial and

social impact and can restrict the prognosis for survival. The

constant progress being made in diagnostics makes it necessary to

continually update knowledge and information.

PATIENTS AND METHODS. We carried out a review of the hereditary

neuromuscular diseases contained in the Neuropaediatrics database at

the Hospital Servet in Zaragoza from May 1990 to October 2004.

RESULTS. Of the 7,805 patients in the database, 123 (1.5% of the

total) were patients with hereditary neuromuscular diseases, of whom

71 were males and 52 females. These included: 35 sensory-motor

hereditary neuropathies, 17 dystrophinopathies, 10 myotonic

dystrophies, 10 spinal muscular atrophies, four merosin-deficient

congenital dystrophies, four other muscular dystrophies, three

mitochondrial myopathies, three myasthenias, two familial

neuropathies with insensitivity to pain, two Friedreich's ataxias,

one familial neuropathy with liability to pressure palsies, one case

of -Warburg syndrome, five polyneuropathies associated to

leukodystrophy and another 25 cases that could not be classified.

Genetic studies provided a diagnosis in 36 cases (29.2%): nine

myotonic dystrophies, eight dystrophinopathies, eight cases of spinal

muscular atrophy, four demyelinating sensory-motor hereditary

neuropathies, two instances of Friedreich's ataxia, two limb-girdle

muscular dystrophies, one congenital myasthenia, one McArdle's

disease and one case of Kearns-Sayre syndrome.

CONCLUSIONS. Genetic studies enable us to establish diagnoses that

were previously limited to the realm of assumption, and allow us to

avoid the need for muscle tissue biopsies, which is a welcome

development, especially when dealing with children.

Immunohistochemical studies need to be updated and biological samples

should be systematically saved in cases where no diagnosis is reached.

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