Kurschmann-Batten-Steinert Disease

Kurschmann-Batten-Steinert disease

Kurschmann-Batten-Steinert disease is a rare inherited disorder characterized by progressive muscle weakness and skeletal muscle atrophy.

This disease was first described in the late 19th and early 20th centuries by three neurologists - the German Kurschmann, the Englishman Batten and the German Steinert, after whom it was named.

The main symptoms of Kurschmann-Batten-Steinert disease are weakness and thinning (atrophy) of the muscles of the face, neck and distal limbs. Muscle cramps and myotonic reactions (difficulty relaxing muscles after contraction) are also characteristic.

The disease is inherited in an autosomal dominant manner and is associated with mutations in the DMPK gene. Pathological changes consist of the accumulation of abnormal protein in muscle cells.

Treatment of Kurschmann-Batten-Steinert disease is mainly symptomatic and is aimed at reducing muscle cramps, physical therapy and maintaining the patient's mobility. Radical treatment methods have not yet been developed.

Kurshman-Batten-Steinerg syndrome (CBS) is a hereditary neuromuscular disease resulting from mutation of the SMN1 gene in a syndrome on the first and second chromosomes, usually associated with KAT6B disease.

It is called Kurschmann syndrome in honor of the German pediatrician Hans Kurschmuan, Bottne - in honor of the American doctor Frank Battens, Steinrauergen - in honor of the Russian geneticist and neurologist V. A. Steinerg. The first to describe this disease were German pediatricians Hans Kurschimann and Albert Richter - this happened in 1883. However, for a long time this diagnosis was considered synonymous with muscular dystrophy, and often even the cause of death of the patient. Downs syndrome and alfalfa X-associated spinal muscular amyopathy (LGMD 6).

The clinical picture most often manifests itself before the age of 6 years (up to 2.5 years) with a sharp weakness of the muscles in the legs (spastic paraparesis, tetraparesis). Trunk hypertonicity is also often expressed in the form of mild opisthotonus, tics, and obsessive movements. Mostly males are affected (the ratio of men to women is 5:1; the ratio of major types: segregated 21:3.4; X-linked 13:4.7).