Anterior Horn cell disease

😏cidpusa.org Weakness Myopathy, Neuropathy, WEAKNESS; Myopathy, Anterior horn cell disease, Neuropathies, Neuromuscular transmission disease

4) Biochemical studies  

Numerous studies are available but only neuromuscular transmission defects and primary muscle diseases (myopathies) will be discussed. 

Neuromuscular transmission defects.  In myasthenia gravis, acetylcholine receptor antibodies destroy the post synaptic acetylcholine receptors and they are detectable in blood samples. 

Primary muscle diseases - With muscle breakdown of any kind, creatine phosphokinase (CK) is released into the blood where it can be measured. 
 
5) Genetic studies 

 The genetic defects of many neuromuscular diseases are now known and can be detected in peripheral blood or in muscle. 
 

Let us put this all together

1.  Anterior horn cell diseases  

Common causes of anterior horn cell diseases are poliomyelitis, motor neuron disease and spinal muscular atrophy. Only spinal muscular atrophy will be discussed further. This is usually an autosomal recessively inherited disease with onset at any time from infancy to adulthood. The primary pathology is the progressive loss of anterior horn cells until the patients become so weak that they die - usually from an associated lung infection. The reason for the progressive loss of anterior horn cells is not clear, but the disease is associated with an abnormality on chromosome 4. 

EMG findings: Normal nerve conduction velocities, normal SNAP amplitudes, low CMAP amplitudes, large MUPs on needle examination, fasciculations. 
Histology: Type grouping and group atrophy. 
Biochemistry: Defect on chromosome 4. 

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