Congenital fiber-type disproportion

Finally finished high school and now enter to his new dream studying computer science...so proud of him....today register for college....🍀🍀🍀

Beautiful lyrics that spell out special need kid parents feeling ♥ and how the raise their love one.

I Won't Give Up - Jason Mraz (Lyrics).

This song explain the ♥ and feeling of special need kid.

I shared the song with my son and told him this is us and he replied said "Yes" thank you for always be there for me.

The song explain my heart and feeling and motivate me to do more........

Everyday is a wonderful day,
no matter what "be positive" is the answer to
all the difficult questions.

Let's welcome 2020 with full of hope.
Parents of the special needs kids is a fighter and we will never give up of them......

I know I don't always post the update for CFTD progress, but I share is how to handle CFTD person and don't give up on the person give them quality of life, their journey will be with love and cares.

My boy have grown up...all set to attend the his school prom without my company...very proud of him. He start to learn how to be independent and handle challenges.

Managed to complete high school follow normal stream, next will be looking college he plan to study computer science ..... Wish us luck

Every time looking for school is a big challenge hope looking for colleges have less challenging and obstacle ....

Some thing to share
Discovered his respiratory results drop by 14% before go for operation so recommend my Respi prof to try cough assist to exercise his lung. It work i can see he eyes muscle also improved. His breathing improve after salbutamol and cough assist twice a day.

With all the preparation now we are in Italy for short trip....

I am glad to share that 2017 he Scoliosis curve reading is 118 degrees and 2018 at 120degrees mean the brace and DDS therapy help to maintain the condition.

Make a wish Malaysian our distinguish guests.

After six mths the curve on increase 4degrees mean the massage and brace help to slow down the curve.

Exercise and preparing for big exam... one week to go. He is very determine... hope for better grades...

One of my Korean friend's shared with me one mth ago said massage may help his scoliosis and it does work. At the same time this month I had discovered DDS Therapy and the above picture is a combine of home massage and 3 sessions of DDS Therapy.
He continues to wear the brace during day time.

Will do whatever we can to help the curve get worst now we are trying out massage.. hopefully it will help....

Today Han Yew had follow up in PPUM his scoliosis curve getting worst compare to 2015 all his organs move to one side now start to create pain 😢... nothing much the doctor can do but what we can do is just continue hope the progress growth on the curve is slower so it will not affect his heart. The best activity he need to do it breathing exercise this will help in expending the lung....will work hard to slow down the curve degree.

Using template to make his drawing better 😘

https://m.facebook.com/story.php?story_fbid=10154447074813959&id=811533958

He may have limitation...
He will never give up trying....
Hope is always in his way if he try
Every opportunity will lead to succession

This piece of art he will donate out.... to WeCare Journey... I am so proud of him💞

Some time when we are very busy addressing the big issues or care for the day to day things and failed to see the little things. It have been more than 6yrs I did not bring Han Yew upstairs and he actually miss going upstairs. Last few days I carried him upstairs to sleep he was very happy. Thank you to Sook Yee and Poh Choo. I can see his happiness.

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life. Prevalence is unknown, incidence is estimated to be inferior than 1:50,000 live births. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Ophthalmoplegia and bulbar weakness can be seen. Tendon reflexes are often decreased or absent. Approximately 30% of patients have mild to severe respiratory involvement and feeding difficulties. Contractures (ankles, fingers, hips, elbows, knees) and spinal deformities (scoliosis, kyphoscoliosis, lordosis) occur in approximately 25% of affected children. Congenital hip dislocation and talipes equinovarus may also be present. In rare cases, cardiac involvement, cognitive impairment and cryptorchidism may occur. Ophthalmoplegia, ptosis, and facial and/or bulbar weakness with severe limb/respiratory weakness predict a poor prognosis. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibers. Type 1 muscle fibers are predominant compared to type 2 fibres, which are either normal or hypertrophied. CFTDM can be inherited in autosomal recessive, autosomal dominant, or X-linked manner. Causative mutations have been identified in two genes, ACTA1 and SEPN1. Diagnosis is based on a combination of clinical presentation and morphologic features observed on skeletal muscle histology. Molecular testing is clinically available for both genes. Prenatal testing is feasible. Differential diagnoses include other congenital myopathies (X-linked myotubular myopathy, multiminicore disease, nemaline myopathy) and neuromuscular disorders (congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy) (see these terms). Management is directed towards treating the muscular weakness and contractures (through physical and occupational therapy, exercise, stretching), respiratory problems (breathing exercises, chest physiotherapy, ventilatory support), feeding difficulties (gavage or gastrostomy feedings). Regular orthopedic monitoring is needed and corrective surgery may be necessary. Over time, CFTDM becomes static in more than 90% of patients or even shows improvement and, rarely, is slowly progressive.
Expert reviewer(s)
Dr Luciano MERLINI
Last update: December 2007

Hypotonia assessment

Traction response

Maneuver: Grasp child's hands; Pull to sitting position

Newborn: Head lags behind; Drops forward suddenly when upright posture is reached

Normal at 1 month: Minimal head lag; Flexion at the elbows, knees, and ankles

Premature infants < 33 weeks' gestation: Absent

Suspension: Vertical & Horizontal

Assessment of mother
History: Delayed walking or other motor functions;
- Skeletal or joint deformity
- Strength
- Myotonia

New Nebulizer....Han Yew love it and now he is back in action less tired

Sharing knowledge and support group.

Congenital fiber-type disproportion Sharing Knowledge Of Congenital fiber-type disproportion.

Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some individuals remain non-ambulatory throughout life, many eventually develop the ability to walk. In more than 90% of affected individuals, muscle weakness is static or improves; in the remainder it is usually slowly progressive. Mild-to-severe respiratory involvement is seen in approximately 30% of affected individuals; respiratory failure may occur at any age. Ophthalmoplegia, ptosis, and facial and/or bulbar weakness with severe limb/respiratory weakness may predict a poor prognosis. Mild-to-severe feeding difficulties occur in nearly 30% of children. Contractures of the hips, knees, ankles, elbows, and fingers occur in approximately 25% and may be present at birth or occur in older persons with decreased mobility secondary to severe weakness. Spinal deformities including scoliosis, kyphoscoliosis, and lordosis are seen in 25% or more of individuals.

What is congenital fiber-type disproportion?
Congenital fiber-type disproportion is a disorder that primarily affects skeletal muscles, which are muscles the body uses for movement. People with this disorder typically experience muscle weakness (myopathy) throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Affected people may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require extra support and use a detachable mask (noninvasive mechanical ventilation) to help them breathe at night, and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).
The severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. Muscle weakness generally does not worsen over time, and in some cases it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.

How common is congenital fiber-type disproportion?
Congenital fiber-type disproportion is thought to be a rare condition, although its prevalence is unknown.