Myotonic dystrophy

Also known as: 근긴장성 이영양증 근육긴장퇴행위축

Doctors who treat Myotonic dystrophy

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Konkuk University Hospital Oh Ji-yeong

Oh Ji-yeong

Konkuk University Hospital · Neurology

희귀질환클리닉, 말초신경근육질환, 자율신경질환, 다발성경화증, 근무력증, 아밀로이드신경병증, 실신

5.0
Soonchunhyang University Seoul Hospital Park Hyeong-gi

Park Hyeong-gi

Soonchunhyang University Seoul Hospital · Neurosurgery

척추질환, 말초신경질환, 두부외상, 통증, 사이버나이프 방사선수술

5.0
Yonsei University Severance Hospital Kim Seung-u

Kim Seung-u

Yonsei University Severance Hospital · Neurology

중증근무력증,근위축측삭경화증(루게릭병),다발성경화증,시신경척수염,MOG항체연관질환,척수염,길랭-바레 증후군,만성탈수초다발신경병(CIDP),다초점운동신경병,염증근육병

5.0
Yonsei University Severance Hospital Shin Ha-yeong

Shin Ha-yeong

Yonsei University Severance Hospital · Neurology

중증근무력증, 만성염증탈수초다발신경병, 다초점운동신경병, 희귀신경근육질환

5.0
Ulsan University Hospital Kim Seon-yeong

Kim Seon-yeong

Ulsan University Hospital · Neurology

근육질환, 두통, 어지럼증, 중증근무력중, 손발저림 클리닉, 다발성경화증, 자율신경장애

5.0
Seoul Metropolitan Government-Seoul National University Boramae Medical Center Yang Hui-jin

Yang Hui-jin

Seoul Metropolitan Government-Seoul National University Boramae Medical Center · Neurosurgery

척추질환, 말초신경질환, 척추신경클리닉

1.0
Ajou University Hospital Lim Yong-cheol

Lim Yong-cheol

Ajou University Hospital · Neurosurgery

뇌혈관질환, 뇌졸중, 뇌꽈리, 뇌동맥류, 뇌출혈, 두피정맥류, 뇌내출혈, 척추동맥박리, 지주막하출혈(거미막), 성인 모야모야병, 중재적치료, 감마나이프 수술

Chosun University Hospital Bong Jeong-bin

Bong Jeong-bin

Chosun University Hospital · Neurology

말초신경 및 근육질환, 중증근무력증, 척수질환

Soonchunhyang University Gumi Hospital Lee Gwang-su

Lee Gwang-su

Soonchunhyang University Gumi Hospital · Neurosurgery

척추 질환, 말초신경 질환

St. Vincent's Hospital, Catholic University of Korea Ahn Jae-yeong

Ahn Jae-yeong

St. Vincent's Hospital, Catholic University of Korea · Neurology

근육병, 말초신경질환, 다발성경화증, 척수염

1) Disease Description (Causes and Symptoms)

  • Definition summary: Sarcopenia is a condition in which muscle mass, muscle strength, and muscle function (physical function) decrease together, reducing the ability to perform activities of daily living and increasing the risk of falls and death.
  • Main causes: Age-related hormonal changes (decreases in sex hormones, growth hormone, insulin, and IGF-1), inadequate protein intake (especially essential amino acids/leucine), insufficient physical activity (particularly resistance exercise), chronic inflammation (low-grade inflammation in older adults), chronic diseases (diabetes, chronic cardiopulmonary or kidney disease, cancer, etc.), malabsorption, medications (such as long-term steroids), and reductions in neuromuscular junctions and motor units.
  • Key pathophysiology: Atrophy of muscle fibers (particularly type II fibers), reduction in motor units, decreased protein synthesis versus increased breakdown (including the ubiquitin–proteasome pathway), impaired mitochondrial function, and reductions in muscle strength and endurance due to intramuscular fat deposition and fibrosis.
  • Typical symptoms: Slow walking speed, reduced grip strength, lower-extremity weakness/fatigue, difficulty performing activities of daily living (such as climbing stairs and standing up), and an increased risk of frequent falls and fractures.

2) Treatment Methods and Precautions

  • Non-pharmacological treatment (basic treatment)
    • Resistance strength training (2–3 times per week, following the principle of progressive overload): Strength exercises focusing on large muscle groups such as the quadriceps and gluteal muscles, aiming for 8–12 repetitions, are recommended.
    • Combine with aerobic exercise (150 minutes of moderate-intensity or 75 minutes of vigorous-intensity exercise per week is recommended).
    • Nutritional therapy: A total daily protein intake of 1.0–1.5 g/kg (adjusted according to health status and comorbidities) is recommended, with 20–40 g of high-quality protein (including leucine) per meal or snack. Vitamin D supplementation is recommended in cases of vitamin D deficiency (based on test results). Ensure adequate energy intake when calorie intake is insufficient.
    • Occupational and physical therapy for restoring daily function (balance training and gait training).
    • Fall prevention (environmental modifications, assistive devices, and osteoporosis management).
  • Pharmacological/interventional treatment
    • There is currently no approved specific drug for sarcopenia.
    • In selected situations, hormone replacement (for example, considering treatment for low testosterone in men) or investigational drugs (potential therapeutic options such as SARMs and myostatin inhibitors) may be considered under the judgment of a specialist, but these are not standard treatments in general.
  • Comorbidities and correction of causes
    • Identify and correct chronic diseases (diabetes, thyroid or adrenal abnormalities, etc.), nutritional deficiencies, and medications (such as long-term steroids).
  • Precautions (complications and self-management considerations)
    • Be alert to a sharp decline in muscle strength after an acute illness or hospitalization (acute sarcopenia).
    • Cardiovascular assessment is necessary before high-intensity exercise (when there is a history of cardiovascular disease).
    • Excessive protein intake requires caution in cases of reduced kidney function (consult a specialist if there is a history of kidney disease).
    • Osteoporosis testing and treatment are recommended in parallel to prevent falls and fractures.

3) Checklist Before an Outpatient Visit (Items to Bring and Example Questions)

  • Items/data to bring
    • A list of medications currently being taken (including prescription drugs, over-the-counter drugs, and nutritional supplements)
    • Records of weight changes (over the past 6–12 months) and eating and protein-intake patterns (for example, the amount of protein consumed at one time)
    • Daily activity level (stair climbing, walking distance, and whether assistance is needed) and a history of falls
    • Previous test results (bone mineral density testing, DXA/BIA, and blood tests [creatinine, electrolytes, blood glucose, TSH, 25‑OH vitamin D, etc.])
    • If possible, recent muscle strength (grip strength) and walking-speed measurements or results of functional tests (such as SPPB)
  • Items to tell the doctor in advance during the outpatient visit
    • Whether there has been rapid weight loss, decreased appetite, or difficulty swallowing (dysphagia)
    • Whether there has been a recent hospitalization or prolonged bed rest
  • Items for patients to record in advance as example questions
    • Average daily walking time/exercise frequency and type
    • Protein intake (approximate protein grams per meal) and whether supplements are being used

4) Examples of General Questions to Ask the Doctor

  • What do you think is the cause of this condition? Are there any comorbidities?
  • Based on what criteria, and to what extent, are my muscle status (muscle mass, muscle strength, and walking speed) abnormal? What is the prognosis?
  • What exercise (frequency, intensity, and type) and nutrition (total protein amount and whether supplements are recommended) do you recommend?
  • Could any medications or supplements I am currently taking affect sarcopenia? Should I stop or change any of them?

5) Examples of Disease-Specific Questions (1–2)

  • What were the values for the diagnostic criteria for sarcopenia in my test results (for example, ASM/height^2, grip strength, and walking speed)? Which items are problematic?
  • Could you tell me the specific exercise prescription recommended for my condition (number of sessions per week, sets and repetitions, and starting intensity) and my daily protein target in grams?

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This information is for general understanding only and does not replace diagnosis, prescription or treatment for an individual patient. If you have symptoms, please see a doctor.

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