No abstract available.
Dystonia Musculorum Deformans* ; Dystonia*

Myotonia dystrophica(Synonym: Myotonia atrophica, Dystrophia myotonia, Steinert's disease) is a autosomal dominant hereditary multisystemic disorder involving several organs besides skeletal muscle, and commonly called with myotonia congenita, paramyotonia congenita as myotonia. Although most cases are of adult onset, where a mother has the disease, neonatal dystrophia myotonia can occur in her offspring. The main feature is a steadily progressive muscle dystrophy, complicated by myotonia, which is a failure of muscles to relax normally after a forceful contraction. Steinert in 1909 was the first to report the finding of atrophic testes and baldness in patients with myotonia dystrophica, and the other clinical feature of myotonia dystrophica were reported by many authors after that time. We are reporting a case of myotonia dystrophica, which showing familial history with brief review of literature.
Adult ; Alopecia ; Humans ; Mothers ; Muscle, Skeletal ; Muscles ; Myotonia Congenita ; Myotonia ; Myotonic Disorders ; Myotonic Dystrophy ; Testis

Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction or following mechanical or electrical stimulation. Although weakness is always present with progression of myotonic dystrophy, many patients with myotonia congenita never develop weakness. In the autosomal dominantly inherited form of congenital myotonia (Thomsen's disease), symptoms revolve around myotonia but weakness is not present. However, in the autosomal recessive (Becker's) type congenital myotonia, mild weakness and marked muscle hypertrophy is common. We report two cases of sporadic developing Becker's type congenital myotonia with electrophysiologic and muscle biopsy findings and review of literatures.
Biopsy ; Electric Stimulation ; Humans ; Hypertrophy ; Muscle, Skeletal ; Myotonia ; Myotonia Congenita* ; Myotonic Dystrophy ; Relaxation

No abstract available.
Hepatolenticular Degeneration*

No abstract available.
Hepatolenticular Degeneration*

No abstract available.
Hepatolenticular Degeneration*

No abstract available.
Hepatolenticular Degeneration*

No abstract available.
Hepatolenticular Degeneration*

No abstract available.
Hepatolenticular Degeneration*

No abstract available.
Hepatolenticular Degeneration*