Ann Rehabil Med.  2014 Apr;38(2):292-296.

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant

• Park Y
• Park MS
• Sung DH
• Sohn JY
• Ki CS
• Kim DH

Abstract

Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint hyperlaxity), difficulty of respiration, and many skin keloids. Her hip computed tomography showed diffuse fatty infiltration and the 'central shadow' sign in thigh muscles. From the clinical information suggesting collagen type VI related muscle disorder, UCMD was highly considered. COL6A1 gene sequencing confirmed this patient as UCMD with novel c.904G>A (p.Gly302Arg) variant. If musculoskeletal and dermatologic manifestations and radiologic findings imply abnormalities in collagen type VI network, COL6A related congenital muscular dystrophy was to be suspected.

Keyword

Ullrich congenital muscular dystrophy; Collagen type VI related muscle disorders; COL6A mutation

MeSH Terms

Adult
Collagen Type VI
Congenital Abnormalities
Contracture
Female
Hip
Humans
Joints
Keloid
Muscles
Muscular Dystrophies*
Orthopedics
Respiration
Sclerosis
Skin
Thigh
Collagen Type VI

Figure

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  Fig. 1 (A) The patient couldn't contact her heel to the ground at upright position due to severe ankle contractures. (B) The photographs show her hypermobile toes. (C) Skin examination revealed keloid (arrow) and striae (arrow head) on her chest.

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  Fig. 2 Hip computed tomography show diffuse fatty infiltration and atrophy with thigh muscles (asterisk) and the 'central shadow' in the rectus (white arrow head), but it is still possible to notice some relative sparing of the medial thigh muscles (white arrow).

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  Fig. 3 Direct sequencing of COL6A1 gene reveals a missense mutation in the patient (arrow).

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