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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.

Very rare.

Autosomal recessive.

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 constant findings.

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 mental retardation.

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 70:1446, 2002.  [PubMed: 11992252]

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