Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hirayama's disease is a rare clinical variant of amyotrophic lateral sclerosis where distal muscles are involved more compared to proximal muscles and vice-versa occurs only in 10% cases and so it is differentiated from O'Sullivan McLeod syndrome which involves only small muscles of single limb. Here, we present a case of Hirayama's disease where disease achieved a plateau after 3 years with no further progression. His electrophysiological studies, and clinical picture, and magnetic resonance imaging findings were consistent with a diagnosis of Hirayama's disease.
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PMID:Hirayama's Disease: A Rare Clinical Variant of Amyotrophic Lateral Sclerosis. 2882 46

Atypical motor neuron disease represents a rare heterogeneous group of neurodegenerative disorders with clinical, genetic and neuroimaging features distinct from those of the classic spinal or bulbar-onset amyotrophic lateral sclerosis (ALS). O'Sullivan-McLeod syndrome represents an extremely rare lower motor neuronopathy with early adult-onset distal amyotrophy and weakness in the upper limbs with asymmetrical involvement. To add to the few case series and epidemiological and genetic studies describing this variant syndrome, our team here presents a series of seven unrelated Brazilian patients with O'Sullivan-McLeod syndrome in a detailed review of their clinical, neuroimaging, laboratory and neurophysiological findings. A male-to-female ratio of 2.5 to 1 and a mean age at onset of 34.3years was observed, with a mean time delay of 6.6years between symptom-onset and a definitive diagnosis. A positive family history was observed in one case, yet whole-exome sequencing results were negative. Neuroimaging studies were unremarkable. All cases presented with chronic denervation restricted to cervical myotomes and normal sensory nerve conduction studies. This case series, one of the largest groups of patients with O'Sullivan-McLeod syndrome reported in the literature, confirms the sporadic nature of the condition and the difficulties faced in arriving at a definite diagnosis, and also expands the age limit in late adult-onset cases.
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PMID:O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease. 3040 80