Where is the rare disease of the corporate boss to donate 100 million medicine?

For medical professionals for reading reference

It is hoped that Wilson's "money ability" can help this rare disease to find treatment.

Wilson is the founder of Lululemon, a yoga brand in recent years. After retreating to the second line, he rarely sees news about him on social media. Recently, he revealed his current situation.

As early as 30 years ago, he was diagnosed with a rare disease -Face -shaped Hab muscle atrophy (FSHD). But at this stage, FSHD has no effective treatment for the time being. In order to seek treatment methods, Wilson announced that it would spend 100 million Canadian dollars for research and plans to study effective treatment methods for FSHD in 5 years.

Photo source: facebook

Wilson is 66 years old. More than 30 years ago, when he was young, he suddenly found that his arms were unable to scratch, and his back faintly painful, so he went to see the doctor and was diagnosed with FSHD. Fortunately, this disease has not affected his life for a long time, and it was not fully attacking until he was later. Now, Wilson's face and upper body muscles have lost strength, which is why he is eager to invest in FSHD drug development.

Where is FSHD sacred?

Can the rich invest in self -rescue?

FSHD is a hereditary disease, with a incidence of about 1/20000. It is the third largest muscle malnutrition symptoms after DMD and adelective muscle malnutrition [1].

FSHD's clinical characteristics were first described by Landouzy and Dejerin in 1885. It is considered a subtype of muscle malnutrition in a long period of time. Until 1950, FSHD's clinical phenotype and gene mutation characteristics were officially reported and named "FSHD".

Although the clinical symptoms of FSHD are highly heterogeneous, they are generally affected by the face, manifested as incomplete or weakness, whistle and drums, and the lips are thickened, and the expressions are reduced [2]. The atrophy of facial muscles can make it difficult for patients with FSHD to close their eyes, and they can't even smile.

In 2018, "You are not alone" FSHD patient caring for the love organization has launched a orange smile challenge, that is, through this feature, let the society pay attention to FSHD patients. This event attracted many celebrities including Deng Yaping and Liu Tao.

Picture source: Douyin

Patients will gradually suffer from scapula, upper arm, legs, or core parts. Patients with wing -shaped scapula at the atrophy of the scapula, so FSHD is also called "Little Flying Man".

As the condition progresses, muscle weakness can spread to any muscles later, including calves, thighs and abdominal muscles. About 20%of FSHD patients need to use wheelchairs before the age of 50, and more than 70%of people will experience pain and fatigue [2].

However, the first symptoms of facial muscle weakness are usually not easy to detect. As of adolescence, patients are mostly diagnosed due to weakness and difficulty in combing their hair. Some patients may have no facial muscle atrophy, and only symptoms of weakness in trunk muscles, pelvic muscles, and lower limb muscle muscle muscles. Other patients with more clinical manifestations outside the skeletal muscle system are more significant, such as lung dysfunction, retinal vascular disease, arrhythmia, epilepsy and intellectual disorders [2]. This increases difficulty to early diagnosis.

Picture source: Literature [3]

Can it be found and diagnosed as soon as possible?

The diagnosis and identification of FSHD requires the clinical characteristics of patients and the results of muscle biopsy, and at the same time, other auxiliary examinations are integrated.

▎ clinical characteristics

In addition to the clinical symptoms of the above -mentioned characteristics, if the symptoms also have the following characteristics, the disease may be alert [2]:

(1) The disease progress is relatively rapid;

(2) Early muscle beating;

(3) Symptoms of muscle weakness are relatively heavy than muscle atrophy;

(4) Check the mild increase or normal of the plasma muscle enzyme spectrum.

▎ muscle biopsy

At present, the evaluation of diagnosis and lesions is mainly based on muscle biopsy. Skeletal muscle pathology biopsy presents common changes in muscle malnutrition. Part of them can be mild or uncomfortable with clinical symptoms. Those with lighter pathological changes are only manifested as muscle fiber size, small keratinized muscle fibers are scattered; muscle pathological changes can be seen in a large number of single nucleitis cell infiltration, similar to multiple myocarditis, limb muscle malnutrition 2B (2B (2B Change of LGMD2B [1].

▎ molecular diagnosis

However, whether it is a conventional auxiliary examination or skeletal muscle pathology biopsy, it lacks specificity of FSHD. At present, more application molecular diagnosis technology helps to confirm the diagnosis. SOUTHERN Blotting technology based on pulse gel electrophoresis or agar sugar gel electrophoresis is the "gold standard" currently diagnosed with FSHD. Compared with traditional detection methods, the molecular combination technology diagnosis of molecular combination is easier and easy to facilitate clinical promotion and application.

At present, FSHD lacks special effects therapy. With the continuous progress of molecular genetic and cell level research technology in recent years, the DUX4 gene has become a hot spot for FSHD molecular treatment. It is believed that with the advancement of medical technology, new treatment will soon appear.

references:

[1] Zhang Cheng, Li Huan. Noodles-Shoulder-Hab-type muscle malnutrition research progress [J]. Chinese modern neurological disease magazine, 2019,19 (5): 299-311.

[2] Zhang Yanli, Wu Xuemei, Yang Liming, etc., etc. The characteristics of muscle pathological characteristics and morphological measurement analysis of the malnutrition of the shoulder-shaped brachial muscle [J]. Chinese physician magazine, 2020,22 (10): 1524-1528. [3] Huang Liwei, Lei Ge Sheng. A rare sub-type of motor neuron disease: an example of exuding facial shoulder-shaped spinal muscle atrophy in the literature [J]. Chinese clinician magazine (electronic version), 2013, (11): 4779- 4781.

Source: Rare Disease Channel in the medical community

Editor: Wang Hang

School pair: Zang Hengjia

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