Ullrich congenital muscular dystrophy (UCMD) is a form of

congenital muscular dystrophy Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges fr ...

. There are two forms: UCMD1 and UCMD2. UCMD1 is associated with variants of type VI

collagen Collagen () is the main structural protein in the extracellular matrix of the connective tissues of many animals. It is the most abundant protein in mammals, making up 25% to 35% of protein content. Amino acids are bound together to form a trip ...

, while UCMD2 is associated with variants of type XII collagen. UCMD is commonly associated with

contracture In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. A contracture is usually permanent, but less commonly can be temp ...

s, joint laxity,

muscle weakness Muscle weakness is a lack of muscle strength. Its causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, includ ...

and

respiratory problems The respiratory system (also respiratory apparatus, ventilatory system) is a biological system consisting of specific organs and structures used for gas exchange in animals and plants. The anatomy and physiology that make this happen varies grea ...

, though cardiac issues are not associated with this type of CMD. It is named after

Otto Ullrich Otto Ullrich (1894-1957) was a German pediatrician who identified and named Ullrich syndrome. Biography After Otto Ullrich studied medicine in Munich, he served as an assistant physician in the medical corps during World War I. Following the ...

, who is also known for the Ullrich-Turner syndrome.

Signs and symptoms

The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows: *

Muscle weakness Muscle weakness is a lack of muscle strength. Its causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, includ ...

* Difficulty walking (ambulation is typically lost by age 5–15 years) *

Contracture In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. A contracture is usually permanent, but less commonly can be temp ...

s Characteristically, bilateral contractures of the proximal joints of the upper extremities (shoulder and elbows) and proximal joints of the lower extremities (hips and knees). Spine contractures in the form of progressive scoliosis occurs and occasionally contracture of neck musculature also known as torticollis. * Joint looseness Contractures can be associated with distal joint laxity of the upper extremities (wrists and fingers) and of the lower extremities (ankle and toes). * Fatty infiltration of muscle

Genetics

In terms of the genetics of UCMD1, there are mutations in the genes

COL6A1 Collagen alpha-1(VI) chain is a protein that in humans is encoded by the ''COL6A1'' gene. Function The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix ...

COL6A2 Collagen alpha-2(VI) chain is a protein that in humans is encoded by the ''COL6A2'' gene. Function This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product ...

, and COL6A3. This sub-type of muscular dystrophy is both

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

and

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

in nature. COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI

is the encoded protein. In terms of the genetics of UCMD2, there are mutations in the gene

COL12A1 Collagen alpha-1(XII) chain is a protein that in humans is encoded by the ''COL12A1'' gene. This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen famil ...

, and is

Diagnosis

In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum

creatine kinase Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme () expressed by various tissues and cell types. CK catalyses the conversion of creatine and uses adenosine triphosphate (ATP) to create phos ...

may be mildly above normal. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are: *

MRI Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and rad ...

Biopsy A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, an interventional radiologist, or an interventional cardiology, interventional cardiologist. The process involves the extraction of sampling (medicine), sample ...

muscle *

Genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...

Differential diagnosis

This includes Phenotypes of overlap between Ullrich congenital muscular dystrophy (UCMD) and

Bethlem myopathy Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected. Bethlem myopathy 1 (BTHLM1) ...

can be assumed. In the

differential diagnosis In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to di ...

of UCDM, even in patients without finger contractures, Bethlem myopathy could be considered.

Treatment

Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce

s. Respiratory support may be needed at some point by the affected individual. Though cardiac complications are not a concern in this type of CMD, in regards to respiratory issues ventilation via a

tracheostomy Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision on the front of the neck to open a direct airway to the trachea. The resulting stoma (hole) can serve independently as an airway ...

is a possibility in some cases.

Prognosis

The prognosis of this sub-type of MD indicates that the affected individual may eventually have feeding difficulties. Surgery, at some point, might be an option for

scoliosis Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others ...

. Scoliosis, which is a sideways curve of the persons vertebrate, is determined by a variety of factors, including the degree (mild or severe), in which case if possible a brace might be used by the individual.

Research

In terms of possible research for Ullrich congenital muscular dystrophy one source indicates that cyclosporine A might be of benefit to individuals with this CMD type. According to a review by Bernardi, et al., cyclosporin A (CsA) used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to

rotenone Rotenone is an odorless, colorless, crystalline isoflavone. It occurs naturally in the seeds and stems of several plants, such as the jicama vine, and in the roots of several other members of the Fabaceae. It was the first-described member of the ...

References

External links

{{Myopathy Myoneural junction and neuromuscular diseases Collagen disease Diseases named after discoverers Rare diseases