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Doctor insights on: Dystrophy Type Tho

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My bf was diagnosed with myotonic dystrophy type 2, tho he has many of the symptoms of type 1. Tried many docs & meds with no luck. Any advice?

My bf was diagnosed with myotonic dystrophy type 2, tho he has many of the symptoms of type 1. Tried many docs & meds with no luck. Any advice?

Myotonic dystrophy: Try www. Myotonic. Org to join with other families that are suffering with a family member with this disease.
Look for help and for doctors that are familiar with the treatment, so you can get a second opinion. ...Read more

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My bf was diagnosed with myotonic dystrophy type 2, tho he has many of the symptoms of type 1. Tried many docs & meds with no luck. Any advice?

My bf was diagnosed with myotonic dystrophy type 2, tho he has many of the symptoms of type 1. Tried many docs & meds with no luck. Any advice?

Dystrophy: He should have seen a neurologist by now and should have had a biopsy that distinguished type 1 from. Type 2. In either case he should have been undergoing intensive physical and occupational therapy. Become affiliated with a university teaching hospital if at all possible for comprehensive treatment. Good luck! ...Read more

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What type of muscular dystrophy causes proper internal growth but improper external growth?

What type of muscular dystrophy causes proper internal growth but improper external growth?

Muscular Dystrophies: Muscular dystrophies cause progressive skeletal muscle weakness & wasting. Main types are Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss, but > 100 similar inherited diseases exist. Most involve an internal organs/systems- heart, endocrine & nervous systems, GI & urinary tracts, skin &/or eyes- at some stage. See mda. Org. ...Read more

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What type of anastasia should people with muscular dystrophy have what type of anastasia should people with muscular dystrophy have

What type of anastasia should people with muscular dystrophy have what type of anastasia should people with muscular dystrophy have

It depends: Certain types of inhalational anesthetics can cause a severe reaction in patients with muscle disorders. This reaction is called "malignant hyperthermia." while it can happen in duchenne muscular dystrophy it is actually more common in other forms of md. Let your anesthesiologist know so that they can "flush out" the machines prior to your surgery. This way they can give you what's safe for md. ...Read more

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What type of anastasia should people with muscular dystrophy have what type of anastasia should people with muscular dystrophy have

It depends: Certain types of inhalational anesthetics can cause a severe reaction in patients with muscle disorders. This reaction is called "malignant hyperthermia." while it can happen in duchenne muscular dystrophy it is actually more common in other forms of md. Let your anesthesiologist know so that they can "flush out" the machines prior to your surgery. This way they can give you what's safe for md. ...Read more

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Tell me about muscular dystrophy DMD. The test like CPK to identify the problem measured in which unit and is there different type of CPK test?

Muscular dystrophy: Muscular dystrophy is a genetic disorder affecting the muscles. There are different types with different modes of inheritance, age of onset and severity. The CK (or CPK), creatinine kinase are usually elevated in any one. There are different isoenzymes for CK yet it is the total CK that is measured and important in muscular dystrophy. The final diagnosis is made by genetic testing or other tests ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

DMD is caused by: Mutation of Xp21.2-p21.1, a large gene that encodes
dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda. Org & a geneticist. ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read more

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How does the dystrophin gene which causes becker type muscular dystrophy get mutated?

How does the dystrophin gene which causes becker type muscular dystrophy get mutated?

2 ways: Genetic information is passed down from parents to their child, either accurately, or with random changes called "spontaneous" mutations. Muscular dystrophy can be inheirited, or occur for the first time in an individual. The actual number of dystrophin "copies" made by the gene of the individual can vary. Environmental factors are not suspected at this time. ...Read more

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Which type saline eye drops can be used for fuch's dystrophy?

Which type saline eye drops can be used for fuch's dystrophy?

Fuch's: Muro 128 is commonly used for patients with fuch's corneal dystrophy. Talk to your eyemd to see if this is right for you. ...Read more

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Spinal cord stimulator I have myotonic dystrophy type 2. Can you tell me if this can be used on a person with md? Pros, cons?

Spinal cord stimulator I have myotonic dystrophy type 2. Can you tell me if this can be used on a person with md? Pros, cons?

Unclear: While your disease process of md may not specifically preclude you from having a spinal cord stimulator placed, the movement disorder you experience may not allow the stimulator to work best in your condition. The lead may not remain in the optimal spot. In addition, with problems like cardiomyopathy, this may not be optimal treatment for you. See a local pain specialist for recommendations. ...Read more

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What type of genetic disorder is the duchenne muscular dystrophy?

What type of genetic disorder is the duchenne muscular dystrophy?

"X-Linked recessive": This means that the problem causing this disease is carried on the x chromosome. Women have 2 of these, men just one. If a boy has an x chromosome that has this genetic defect, there is no other dna to "cover" this up and that boy will have the disease. Women have 2 copies of dna, and only can be carriers. Mothers can then pass this problem on to their sons, however. ...Read more

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Why is there a hard lump on my big toe? I stubbed it. I have Osteogenesis Imperfecta Type 8 and Reflex Neurovascular Dystrophy. Urgent help needed!

Why is there a hard lump on my big toe? I stubbed it. I have Osteogenesis Imperfecta Type 8 and Reflex Neurovascular Dystrophy. Urgent help needed!

It would have to be: Determined if the lump is on the skin, below the skin or if bone involvement. IF it was not there before the stubbing then it could be a contusion or possibly a fracture in which case an X-ray should be performed. ...Read more

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Does having diabetes type 1 as a child increase your chances for muscular dystrophy?

Does having diabetes type 1 as a child increase your chances for muscular dystrophy?

No: The genetic disorders like muscular distrophy are in the genetic code of those who develop the condition. The condition may be evident in early childhood or a bit later & several forms are known. An acquired disease like type 1 diabetes can certainly complicate md's but does not cause them. ...Read more

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I am disabled by a genetic codition called "proximal myotonic myopathy" or "myotonic dystrophy type 2". Any advice for treatment or help?

I am disabled by a genetic codition called "proximal myotonic myopathy" or "myotonic dystrophy type 2". Any advice for treatment or help?

Unsure: Can you be more specific as to what is being adjusted. What kind of spring device and how is it applied and where? ...Read more

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What is fuch's dystrophy and the dsek procedure?

What is fuch's dystrophy and the dsek procedure?

Corneal lining: The inner lining of the cornea consists of cells which pump fluid from the cornea keeping it clear. When these cells are deficient or incompetent, the cornea swells with fluid. This when spontaneous is called fuch's. Surgical replacement of the cells from a donor can restore clarity in a procedure called dsek. ...Read more

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What is a vulvar dystrophy?

What is a vulvar dystrophy?

Abnormal growth: Is the growth of abnormal skin on the vulva. The vulvar skin can be too thin, too thick (hyperplasia), or a mixture of both. ...Read more

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Hi doctors, was just wondering what is fuch's endotholial dystrophy?

Hi doctors, was just wondering what is fuch's endotholial dystrophy?

Fuchs': Fuchs is a problem with the inner layer of the cornea (window to the eye). If this layer fails (the pump of the cornea), then the cornea can swell and vision can become blurry. ...Read more

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What is corneal dystrophy?

What is corneal dystrophy?

Inherited disorder: Dystrophies are inherited disorders. For the cornea, there are many dystrophies. The most common corneal dystrophy is the anterior basement membrane corneal dystrophy. It is also called map-dot-fingerprint dystrophy. ...Read more

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I have corneal dystrophy. What is it?

I have corneal dystrophy. What is it?

Corneal problem: Corneal dystrophy is a term used for a group of inherited disorders of the cornea; the clear part in the front of the eye. They can lead to varying degrees of vision loss depending on the kind of dystrophy. Most can be treated either medically or surgically. ...Read more

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What are the chances that I will inherit fuchs' dystrophy if my grandma had it?

What are the chances that I will inherit fuchs' dystrophy if my grandma had it?

Fuchs: Fuchs dystrophy does run in families and typically develops later in life. If you are concerned, the best next step is a detailed eye examination with an eye care provider who can use a slit lamp to look for any signs of early Fuchs Dystrophy. Fuchs is not 100% transferred so your chances are likely low, but they are not 0%. ...Read more

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What's fuchs's corneal dystrophy?

What's fuchs's corneal dystrophy?

Fuchs: Fuchs is a disease of the inner layer of the cornea. In some pts, this layer fails over time and the cornea can become swollen. When the cornea is swollen, the patient can experience vision loss. Additionally, some patient's with Fuchs' get a plaque or membrane in their central corneal causing vision decline. In these instances, surgery such as DSEK (partial corneal transplantation) is helpful ...Read more

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What is cone dystrophy?

What is cone dystrophy?

Problem withcolor ey: The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. ...Read more

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Fshd musclar dystrophy any updates?

Fshd musclar dystrophy any updates?

Genetic studies only: You are asking about facial-scapular-humaral dystrophy. This is a very familial form of mild muscular dystrophy that involves the face and shoulders and upper arms and is progressive from adolescence on. There are no definite treatments except exercises and at times tendon-muscle transfers. Advances in the genetic evaluation seem exciting. There are trials of Prednisone such as in duchenne's. ...Read more

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I have been diagnosed with cone rod dystrophy. What can I expect?

I have been diagnosed with cone rod dystrophy. What can I expect?

Gradual loss of visi: Most people experience some loss of vision over time. Protect your eyes from the sun or squinting/eye stress. See and be followed by an ophthalmologist (eye doctor - not an optometrist. ...Read more

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Do you think I could join any branch of the military with myotonic dystrophy?

Do you think I could join any branch of the military with myotonic dystrophy?

No, but thank you: For your interest to serve. That's a tough illness to live with, and you would be stressing your muscles out too much doing excercises even to pass Basic Training, regardless of MOS. If you want to serve, there are jobs in the civilian world with various branches of the government that would try to accommodate your illness if possible. The fed is very open to supporting employees w/ special needs. ...Read more

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What are cell count/thickness levels for Fuch's Dystrophy that would indicate it's time for DMEK/DSEK? Current count 1381/1225, thick 594/602

What are cell count/thickness levels for Fuch's Dystrophy that would indicate it's time for DMEK/DSEK? Current count 1381/1225, thick 594/602

Your symptoms: Generally will dictate when you are ready for a corneal transplant. Symptoms of decreased vision, glare, light sensitivity etc. If the corneal swelling is to the point where I worry about permanent corneal scarring, then I usually advise the patient towards surgery sooner rather than later. Avg numbers are about 640 for corneal thickness before surgery. Good luck. ...Read more

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