14.7 Abnormal muscle development

Myotonic dystrophy

Muscle dystrophies are hereditary disorders with progressive degeneration in the skeletal muscles without structural anomalies in the nerve system. They are classified according to the distribution and severity of the muscle weakness. The field is very complex and specialized books for further reading are recommended.

Congenital torticollis

Torticollis congenitalis is characterized by a shortening or contraction of the sternocleidomastoid muscle on one side. The head is tilted on the same side and turned towards the other side. The cause is unclear. On the one hand some make birth-trauma injuries responsible for it, but torticollis congenitalis also appears in children that have been born via a caesarian section.

Further rare diseases

  • Pseudohypertrophic muscle dystrophy
  • Mitochondral myopathy
  • Holt-Oram syndrome
  • Poland syndrome
  • Landouzy-Déjerine syndrome (facioscapulohumeral form of muscle dystrophy)
  • Absent muscles, usually without clinical consequences
  • Surplus muscles (M. soleus accessorius) without clinical consequences
  • Rhabdomyosarcoma

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