Kolpingova rodina Smečno » Spinal muscular atrophy » Peripheral motoneuron disease více

Peripheral motoneuron disease

Diseases are demonstrated by malfunction of the peripheral motoneuron (which is responsible for wilful muscle movements) combined with reduced muscle strength and reduced reflexes. Affliction of the ventral horns, demyelinization or axon degeneration in hereditary or inflammatory neuropathies may be the cause of the diseases. Degenerative process, which affects the peripheral nervous system deteriorate generally. Electromyography and molecular diagnostics enables differential diagnostics. These tests eliminate muscle dystrophy (Habrlová, 2002).

According to Jedlička (2005) the most frequent peripheral motoneuron diseases are:
Proximal spinal muscular atrophy with full disablement of root muscles according to the speed of progression it divides to acute, temporary and chronic form.

Type I – acute infant form (Werdnig-Hoffmann Disease)

Type II – temporary late infant form (chronic form of Werdnig-Hoffmann Disease)

Type III – juvenile spinal muscular atrophy (Kugelberg-Welander Disease)

Type IV – adult onset (Aran-Duchenn Disease)


Distal spinal muscular atrophy has more clinical symptoms and lower muscle strength on distal lower and upper extremities compared to the proximal form. It is typically characterized by insidious onset and very slow progression. Heredity is autosomally dominant and recessive.

Hereditary neuropathy forms a mixed group and is the most frequent neuromuscular disease. The symptoms of the disease are different and show minimally. Most of the patients do not know of their disease however it is evident on the EMG. It is possible to determine the particular disease in the molecular genetic examinations (Jedlička, Keller, 2005).