Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, 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
Difficulty walking
Contractures (predominantly in proximal muscles, e.g. neck)
Joint looseness (predominantly in distal joints)

Genetics
In terms of the genetics of Ullrich congenital muscular dystrophy, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive in nature.COL6A1 plays an important part in maintaining the human bodys integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein. 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 may be mildly above normal. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:
MRI
Biopsy muscle
Genetic testing

Differential diagnosis
This includes

Treatment
Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce contractures. 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 is a possibility in some cases.
Renal cortical necrosis (RCN) is a rare cause of acute kidney failure. The condition is "usually caused by significantly diminished arterial perfusion of the kidneys due to spasms of the feeding arteries, microvascular injury, or disseminated intravascular coagulation" and is the pathological progression of acute tubular necrosis. It is frequently associated with obstetric catastrophes such as abruptio placentae and septic shock, and is three times more common in developing nations versus industrialized nations (2% versus 6% in causes of acute kidney failure). Causes
Adults
Pregnancy related (>50% of cases)
Placental abruption
Infected abortion
Prolonged intrauterine fetal death
Severe eclampsia
HIV
Snake bites
Binge drinking
Shock
Trauma
Sickle cell disease
Systemic lupus erythematosus (SLE)
Sepsis
SLE-associated antiphospholipid syndrome
Vitamin deficiency
Pancreatitis
Malaria
Meningococcemia
Drug-induced toxicity (e.g. NSAIDs, Contrast Media, Quinine, or ATRA)

Babies
Congenital heart disease
Fetal-maternal transfusion
Dehydration
Perinatal asphyxia
Anemia
Placental hemorrhage
Severe hemolytic disease
Sepsis

Pathophysiology
The exact pathologic mechanism for RCN is unclear, however the onset of small vessel pathology is likely an important aspect in the cause of this condition. In general the renal cortex is under greater oxygen tension and more prone to ischemic injury, especially at the level of the proximal collecting tubule, leading to its preferential damage in a sudden drop in perfusion. Rapidly corrected acute renal ischemia leads to acute tubular necrosis, from which complete recovery is possible, while more prolonged ischemia may lead to RCN. Pathologically, the cortex of the kidney is grossly atrophied with relative preservation of the gross structure of the medulla. The damage is usually bilateral owing to its underlying systemic causes, and is most frequently associated with pregnancy (>50% of cases).