#myotonia

[chronicallybubbly]

Why are chronic illnesses always buy one get four free? I didn’t want the first one to start with let alone a handful more?!? 😂😭

[petercwhitaker]

Under the Weather

Typical! Just when I finally get the time to get moving on the things that I have been planning for months, I go and catch a cold! It is not just a cold, however. Unfortunately for me, because of the Myotonia congenita that stops my muscles from relaxing after exertion, any kind of respiratory infection tend to be more than ‘just colds’. A sudden cough or sneeze can result in pulled muscles, torn…

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[nautilimps]

It's really stupid that the more upset I get, the stiffer my muscles get. And the stiffer my muscles get, the clumsier I become. Which, of course, makes me more upset. I can't slam a door because my muscles won't let me unclamp the door handle. And I can't dramatically run up the stairs because I'll freeze on the first step.

[babblingblueberry]

--- Vent art. About pain and limitations and frustration with the body you’ve got to travel through your life with. It isn’t so bad, really. It’s perfectly livable, even; but when I do try to cross my limits I’m often humbled by my body, and I have a habit of refusing to listen. I am easily overwhelmed by frustration when told ‘no’, and to be told ‘no’ by my own body breeds a certain kind of bitterness. 

And also about.. Guilt for wanting to voice a struggle that is so minor compared to others’. ‘At least you can walk’, ‘at least you’re not in pain 24/7′. Which is true. of course. I don’t know what that’s like at all. But I think having cried about the limits of your body (or mind) doesn’t have a threshold for how bad things have to be. 

[costamedic]

Myotonic Dystrophy - Learn All About It In 5 Minutes

Myotonic dystrophy type 1

[juniperpublishersophthalmology]

Schwartz Jampel Syndrome- A Case Report- Juniper Publishers

Juniper Publishers- JOJ Ophthalmology

Itroduction

Blepharophimosis is a general diminution of palpebral fissure in all its dimensions. The lids usually show ptosis, dystopia canthorum, lateral displacement of the lateral puncti, or abnormalities of the lashes such as ditichiasis or misdirected and stiff lashes. The other ocular defects associated with congenital blepharophimosis include strabismus, nystagmus, amblyopia, microphthalmus, anophthalmus, epicanthus inversus, microcornea and hypermetropia [1,2]. Schwartz-Jampel syndrome, an autosomal recessively transmitted disease, is a rare presentation of blepharophimosis.

    Case History

A 2 year old male child, having dysmorphic features was referred from the department of Pediatrics for Ophthalmic assessment. The child was the first born of healthy non- consanguineous parents after an uneventful pregnancy. His mental and motor development was normal and he acquired independent walking at 16 months. Fine pincer grasp developed by 9 months of age. At the age of 2 years the child could talk only two words with meaning. Social development of the child was poor because of his abnormal appearance and poor language development. The parents noted the abnormal facial expression at the age of 18 months.

On examination the child had a short stature. The head posture was normal. Forehead did not show excessive wrinkling. The child had blepharophimosis (Figure 1). Lid crease was present. The child also had hypertrichosis. The globe examination was normal. The extraocular movements were normal. There was no refractive error. Fundus was normal. The child demonstrated pursing of lips giving him a 'whistling face' appearance and restricting his mouth opening (Figure 2). The shape of the chest was abnormal with sternal protrusion and sub-costal retraction (Figure 3). There was stiffness of his abdominal wall. The upper and lower limbs demonstrated hypertonia. The deep tendon reflexes were exaggerated. He had a waddling gait. The child had a high pitched voice (Figure 4).

    Discussion

Schwartz-Jampel syndrome is a rare autosomal recessively transmitted disease, characterized by generalized myotonic myopathy, typical facial features, skeletal dysplasia, contracture of joints, growth retardation and bone maturation delay [3]. However a few cases showing dominant inheritance have also been reported. It is classified into 3 types based on age and severity

 Type 1A

 Type 1B

 Type 2

Type 1A

The type 1A disease is diagnosed in mid-childhood with recognition of myotonic facies with convex profile, short palpebral fissure, telecanthus, dimpling or quivering of the chin, prominent eyebrows, low hairline, low-set ears, flat base of the nose, micrognathia, microstomia, sometimes high-arched palate. The child exhibits progressive myotonia, muscle wasting and orthopaedic problems with decreased linear growth myotonia plateus by mid childhood. Additional findings reported in a few cases are myopia, hypertrichosis, and strabismus. The continuous myotonia is probably responsible for both muscular hypertrophy and peculiar facial appearance.

Type 1B

Type 1B is more severe than 1A, Bone dysplasia is present at birth. Long bones are shortened, femurs are dumbbell shaped. Bone epiphyses are large and vertebral bodies are flat.

Type 2

Type2 disease is more severe. Onset is neonatal, there is short limb dysplasia and long bones are bowed. Early death is frequent [4].

The diagnosis is predominantly on the basis of the typical dysmorphic facies [5]. EMG showing continuous discharges further supports the diagnosis. The gene defect in SJS type 1 is located in the 1p34-p36 of chromosome 1, whereas it is different in type 2 [6,7]. Perlecan the major proteoglycan of basement membranes is altered in patients with Schwartz- jampel syndrome disease [8]. However, a significant amount of molecular heterogeneity exists, genomically and proteomically, within SJS type 1. Currently no known correlation exists between the specific mutations found and the specific features of a given case However, the new mutations found by Stum et al. In 2006 have been discovered so recently that not enough time has elapsed to explore such possibilities. The new findings should be important tools to help find correlations among genetic variants, perlecan forms and levels, and clinical subtypes. Other facts yet unknown also may influence the severity and the specific characteristics of the disease [5]. The genetic tests for perlecan gene are not easily available in the commercial laboratories.

The child was diagnosed as having type 1A type of Schwartz- Jampel syndrome since the typical facial features became manifest at the age of 18 months. The old pictures of the child taken on his first birthday showed normal facial features. Medications that have been found useful in myotonic disorders such as phenytoin and carbamazipene may help to reduce the abnormal muscle activity. Warm baths are helpful in reducing stiffness. Botox injections are reportedly found useful to relieve blepharospsm.

Patients are generally treated with Carbamizipene 2030mg/kg body weight and most of them show improvement. Carbamazipene probably works by inhibiting neuronal sodium channels and may have direct effects on neurotransmitter systems. Orbicularis oculi myectomy, levator aponeurosis resection and lateral canthopexy are some surgical procedures which may be tried if the response to carbamazipene or botox is not adequate. The parents of the child were educated regarding the genetic nature of the disease and were referred to the geneticist. This particular child has not reported for follow-up as he belongs to a remote village far from our hospital and is probably reporting for follow-up at a nearby city.

    Conclusion

Schwartz-Jampelsyndromeisararecauseofblepharophimosis. The condition can be managed with medications in most of the?  cases. Surgery may be required if the condition does not improve with drugs.

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[lanawondering-blog]

What is Sports Massage?

http://www.curechiropractic.com/what-is-sports-massage-201812/

Sports massage, otherwise known as isometric massage is primarily designed to increase muscle mass. It is used in disease states where there has been a significant reduction. It could have been caused by a disease process as well as inactivity due to injury. This physical treatment can be successfully introduced as a supplement to strength training.

The basic condition for using this type of massage is the situation when the patient has at least a strength of 4 on the Lovett scale (he can perform an active movement against a small resistance).

Performing an isometric massage requires prior manual tissue preparation. During the procedure we can distinguish three main phases.

1. Preparation of tissues through the use of classical massage techniques

2. The right isometric massage

3. Relieving the state of tissue stimulation

The proper phase of the isometric massage is based on successive series of massage muscles in the isometric contraction state. This condition occurs when the muscle increases its tension without changing its length.

The patient must work closely with the therapist. On the command “start” should stretch the appropriate muscle group, while the slogan “stop” should provoke an immediate cessation of activities.

The isometric phase is extended in each series if the patient’s condition allows it. Then it is 2,4,8,16,32 and 40 seconds. In the intervals between the series, the muscles are intensively massaged for 1 minute.

Importantly, the contraction time can not be extended beyond the indicated 40 seconds.

Finally, there is a gradual phase of silencing with simultaneous reduction of the intensity of the techniques performed.

The overall treatment time is 20-30 minutes,

To achieve the desired effect, a minimum of 10 consecutive treatments should be performed. Before using an isometric massage, it is worth familiarizing yourself with the following contraindications to its implementation.

Significant vascular changes that pose a risk of damage during massage

Myopathy

Myotonia

Neurological diseases with muscle spasticity (MS, stroke, etc.)

Muscle wasting progressive

Muscular dystrophy

Skin changes that make it impossible to perform a massage

High reactivity of the patient to the massage

Regular use of sports massage increases muscle mass, and accelerates convalescence after injuries of the musculoskeletal system.

[moonlilt]

@myotonia honestly???? its like she doesn’t ever think before she speaks and i find it hard to believe since this is not the first time she’s said dumb shit like this. *sighs*