A very rare autosomal recessive disorder,
characterized by muscular weakness, multiple contractures and orthopedic
signs noted at birth or in early infancy. Cellular immunity can be involved.
Ullrich Scleroatonic Muscular Dystrophy; Ullrich
Congenital Muscular Dystrophy; Scleroatonic Muscular Dystrophy/ Myopathy;
Hypotonic Scleroatonic Muscular Dystrophy.
Mutations of COL6A2 and COL6A3 (collagen type VI)
on chromosome 21q22 are presumed to cause this disease.
Characterized by the association of nonspecific signs:
generalized muscular weakness, contractures of multiple joints, and
hyperextensibility in distal joints.
Onset at birth. Clinical features include
congenital muscular dystrophy, neonatal muscle weakness with orthopedic
signs (protrusion of calcaneus, clumsy gait, multiple neonatal proximal
joint contractures, limited spine motion, hyperextensible distal joints, hip
dislocation). Other signs are less frequent and can include hyperhidrosis
and high-arched palate. Insufficient cellular immunity has been reported,
which may contribute to the recurrent upper respiratory tract infections and
pneumonia often observed.
An anesthesiology consultation is highly recommended before elective surgery.
The respiratory system must be carefully evaluated in the presence of muscular weakness (clinical, history, chest radiographs, CT,
pulmonary function test, arterial blood gas analysis).
Careful intraoperative positioning is indicated
because of joint contractures and spine rigidity. Direct laryngoscopy and
tracheal intubation can be difficult because of temporomandibular contractures and
palate abnormalities. Perioperative chest physiotherapy
can be useful.
Succinylcholine is not
contraindicated but is best avoided because of muscular dystrophy and risk
of hyperkalemia. Parasympatholytic drugs should be avoided in the presence of
hyperhidrosis. If necessary, it is recommended to use glycopyrrolate or scopolamine.
Bethlem Myopathy: This autosomal
dominant disorder may be caused by mutation in the COL6A1 gene, COL6A2, or
the COL6A3 gene. The onset of age is most often in early infancy, progression may be
slow, and most affected individuals may reach an advanced age. Moderate
weakness and atrophy of the muscles of the trunk and limbs can be observed.
Characteristically the proximal
muscles are more involved than the distal muscles, and the extensors are more affected
than the flexors. Early flexion
contractures of the elbow and interphalangeal joints of the last four
fingers can be observed. Plantar flexion contractures of the ankles are
Emery-Dreifuss Muscular Dystrophy (EDMD): An
X-linked degenerative myopathy characterized by weakness and atrophy of
muscle without involvement of the nervous system. Contractures and significant limitations of movement of the neck
and spine are often present. Other clinical features include flexion deformities of the elbows beginning in
early childhood, mild pectus excavatum, signs of cardiac involvement and
absence of muscle pseudohypertrophy, involvement of the forearm muscles, and
Demir E, Sabatelli P, Allamand V, et al: Mutations in COL6A3 cause severe
and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet