Lamyotrophie

Lamyotrophie is a rare neurodegenerative condition characterized by progressive loss of motor neurons in the spinal cord and brainstem, leading to muscle weakness, atrophy, and eventual paralysis. First described in a series of case reports in the early 1990s, the disorder is most commonly identified in adults between the ages of 30 and 50, with a slight male predominance. The etiology of lamyotrophie remains largely unknown; genetic studies have identified mutations in the LAMY1 gene on chromosome 12 in a subset of patients, suggesting an autosomal‑dominant inheritance pattern with variable penetrance. Environmental factors, such as exposure to certain neurotoxins, have also been implicated, though causal links have not been definitively established.

Clinically, patients present with asymmetric limb weakness, fasciculations, and reduced reflexes, often beginning in the distal muscles of the upper extremities. As the disease advances, respiratory muscles may become involved, necessitating ventilatory support. Diagnosis relies on a combination of clinical assessment, electromyography showing denervation, and exclusion of other motor neuron diseases such as amyotrophic lateral sclerosis. Neuroimaging typically appears normal, while cerebrospinal fluid analysis is unremarkable.

There is presently no cure for lamyotrophie. Management focuses on symptomatic relief and preservation of function through multidisciplinary approaches, including physiotherapy, occupational therapy, and pharmacologic agents such as riluzole, which may modestly slow disease progression. Ongoing research aims to elucidate pathogenic mechanisms, develop disease‑modifying therapies, and explore gene‑silencing techniques targeting the LAMY1 mutation. Early diagnosis and comprehensive care are essential to improve quality of life for affected individuals.