One of my favorite Zenker tracks. 




WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease.

PubMed: Related Articles

WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease.

Hum Mutat. 2015 Jun 29;

Authors: Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Levy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. This article is protected by copyright. All rights reserved.

PMID: 26123727 [PubMed - as supplied by publisher] http://dlvr.it/BNrFn5

My Foot Is Ruining My Life

So this is a long story I think, but I’m looking for advice and I’m not sure where to turn. At the age of 10 I was in a car accident, which severed my psiatic nerve and destroyed ¾ths of my right leg. I have severe drop foot, osteoporosis, I cant feel or move most of my foot, ankle and leg below my right knee (In researching I’ve found that this might be categorized as Zenker’s Paralysis). It almost always hurts. It always sucks. 

So in 2010 I had an ulcer from my AFO (Ankle Foot Orthotic) that wasn’t healing over the course of a few months, and became infected, leading to osteomyelitis in my fifth metatarsal, and a subsequent amputation of said toe/metatarsal. Then in 2013 I had a new ulcer from another brace, which again led to an infection, and then osteomyelitis, and then a transmetatarsal amputation. Now around this time, actually 1 day before my surgery, medicaid dropped my coverage because I was $100 over the income limit. It might not seem relevant that I’m now $10,000 on debt from all my surgery costs, but that debt and lack of coverage led to me going about 2 years without aftercare. I was using a regular medical boot to get around after a few months on crutches. Then I FINALLY got insurance coverage so I could get a new AFO,l and all of the sudden a callous split open causing another ulcer. You know the story by now right?

So that was in January. I’ve been hospitalized 5 times this year, I’ve been on antibiotics almost constantly, including a couple months with PICC lines. I had to leave my full time and amazing job because my leg hurts all the time, and I always feel tired and sick. The wound isn’t getting better. Every time it seems to make progress, the next week is needs debriding (sp?) and then it’s twice as big again. It’s been 7 months with no real progress in sight.

So my wound doctor says there’s not much more she can do, and sends me over to my old surgeon to talk chops. After an xray he let me know metatarsal #2 grew some more bone and #3 is too long, and both of those are causing a major lack of cushion on the underside of my foot, which is the likely cause of this ulcer. He said I’d need a corrective surgery at the front of my foot, then I could get into an AFO. I asked if I’m always going to have this issues, because I’m honestly sick of constantly being in the hospital and sick and in pain, and I want more than a temporary fix. I dont want to be in his office next year. Is this corrective surgery the right move or should I be looking into a below the knee amputation?

He referred me to a leg surgeon for a second opinion. Leg Man said that a lot of people think they’ll be better off with a Below the Knee Amputation, but he’d recommend being more conservative and trying to correct the stump. He said that they’d have about 2 more tries at correcting the stump before I would need to more to below the knee amputation. I don’t want two more tries. I don’t want to go through this two more times. I’m only 25, that’s why they’re so hesitant to do a BKA, but the thing is: I’m only 25. I cant run with my kids. I can’t even exercise anymore. I just want my life back, and I don’t see foot surgery getting me that. I think a BKA would. So what are your professional opinions? I really need advice, and I’d love to hear outcomes of any previous patients like this. Please feel free to ask any clarifying questions about my condition, and thanks for reading!