Ullrich type congenital muscular dystrophy

Classification according to ICD-10
G71.2	Congenital myopathies
ICD-10 online (WHO version 2019)

The congenital muscular dystrophy Ullrich is a very rare congenital form of muscular dystrophy with the main features of earlier onset of the disease, general, slowly increasing muscle weakness, joint contractures, increased mobility of the distal joints and normal intelligence.

Synonyms are: Ullrich myopathy; Muscular dystrophy, sclero-atonic; Ullrich-CMD (UCMD)

The name refers to the author of the first description from 1930 by Otto Ullrich .

distribution

The frequency of this form of congenital muscular dystrophy is given as 1 to 9 in 1,000,000, so far fewer than 50 sufferers have been reported. Inheritance occurs as an autosomal dominant or autosomal - recessive .

root cause

Depending on the underlying mutation , the following types can be distinguished:

• UCmd 1 with mutations in the COL6A1 -, COL6A2 - gene in the chromosome 21 locus q22.3 or COL6A3 gene in chromosome 3 locus q37.3, which for the alpha chains of the collagen encoding type VI.
• UCMD 2 with mutations in the COL12A1 gene in chromosome 6 locus q13-q14.

Clinical manifestations

Clinical criteria are:

• early onset of illness
• general, slowly increasing muscle weakness starting in the face
• Joint contractures, mostly in the elbow and knee joint
• Hyperextensibility of the distal joints of the hand , foot and fingers
• normal intelligence
• high palate
• Congenital hip dislocation
• Torticollis
• Scoliosis in the course

diagnosis

The diagnosis is made through muscle biopsy and human genetic evidence of the mutation. Proof is possible prenatally .

Differential diagnosis

The following are to be distinguished:

• Bethlem myopathy
• other forms of congenital muscular dystrophy
• Spinal muscular atrophy
• Ehlers-Danlos Syndrome
• Marfan's Syndrome
• Congenital muscular dystrophy 1A (MDC1A), congenital merosin deficiency
• Walker-Warburg Syndrome
• Muscle eye brain disease
• Fukuyama congenital muscular dystrophy

Individual evidence

1. ↑ ^{a b c d} Muscular dystrophy, congenital, Ullrich type. In: Orphanet (Rare Disease Database).
2. ↑ O. Ullrich: Congenital, atonic-sclerotic muscular dystrophy, another type of heredodegenerative diseases of the neuromuscular system. In: Journal for the whole of neurology and psychiatry. 126, 1930, p. 171, doi: 10.1007 / BF02864097 .
3. ^ Ullrich congenital muscular dystrophy 2.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !