World Federation of Neurology research group on neuromuscular diseases

Classification of neuromuscular disorders☆

Based on approximately eight years of data collection with the nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) in the Netherlands, recent epidemiologic information for thirty neuromuscular disorders is presented. This overview includes age and gender data for a number of neuromuscular disorders that are either relatively frequently seen in the neuromuscular clinic, or have a particular phenotype. Since 2004, over 20,000 individuals with a neuromuscular disorder were registered in CRAMP; 56% men and 44% women. The number per diagnosis varied from nine persons with Emery–Dreifuss muscular dystrophy to 2057 persons with amyotrophic lateral sclerosis. Proportions of men ranged from 38% with post-polio syndrome to 68% with progressive spinal muscular atrophy, excluding X-chromosome linked disorders. Inclusion body myositis showed the highest median age at diagnosis of 70 years. These data may be helpful in the diagnostic process in clinical practice and trial readiness.

Each of the various neuromuscular diseases is rare. Consequently, solid epidemiological data are not available and it is often difficult to find sufficient patients for studies. For this reason, the Dutch neuromuscular database, CRAMP (Computer Registry of All Myopathies and Polyneuropathies), was developed in 2004 by the Dutch Neuromuscular Research Support Centre, to store information on patient characteristics and diagnoses (based on Rowland and McLeod’s classification) in a uniform and easily retrievable manner. Care was taken to preserve data confidentiality. It is envisaged that CRAMP will prove particularly useful for studies in which multicentre collaboration is needed to recruit a sufficiently large number of patients. More than 10,000 patients with neuromuscular diseases (4837 female, 5476 male) have been registered since 2004, half of whom (n = 5059) have peripheral nerve disorders.

Lumbosacral plexus neuropathy (LSPN) is an idiopathic clinical syndrome characterized by the sudden onset of neuropathic pain, followed by weakness and sometimes sensory disturbances in the distribution of the lumbosacral plexus. Prognosis is usually favourable, although complete recovery may take several months to years. LSPN is the lumbosacral counterpart of the neuralgic amyotrophy syndrome (idiopathic brachial plexus neuropathy). We present a patient who initially was misdiagnosed with a radicular syndrome, but illustrates the typical signs and symptoms of LSPN. We also give clinical and electromyographical criteria for the diagnosis of LSPN and review the literature.