LMNA-related congenital muscular dystrophy
آخر تحديث 18 Aug 2020
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LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
الوصف
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
In people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted.
Other features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias).
Over time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
L-CMD
LMNA-related CMD
MDCL
Muscular dystrophy, congenital, LMNA-related
Related patient information and medicines
Patient information leaflet
ضمور العضلات
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. There are different types of m... Muscular dystrophy (MD) is the name given to a group of disorders which cause progressive muscle weakness (meaning it gets worse over time). For this reason, regular heart checks are recommended for people with Emery-Dreifuss MD..
Patient information leaflet
ضعف العضلات
It is also seen in a condition called الحثل العضلي (discussed further below). Depression and anxiety are more common in people with Parkinson's disease. نادر causes of muscular weakness Genetic conditions affecting muscles Muscular dystrophies : These are inherited diseases which affect muscles. They are rare disorders but the best known and.
Patient information leaflet
ضمور العضلات الدوشيني
ضمور العضلات الدوشيني هو a condition which causes progressive muscle weakness. It starts in childhood and may be noticed when a child has difficulty standing up, climbing or running. It is a genetic condition and can be inherited. It usually affects ... What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is an inherited.
Patient information leaflet
التخطيط للحمل
This leaflet offers للنساء الحوامل هي تجنب المشروبات التي تحتوي على الكافيين في الثلث الأول من الحمل، وبعد ذلك يجب ألا تستهلك النساء أكثر من 200 ملغ - ما يعادل حوالي كوبين من القهوة - في اليوم،" يقول بوزهزرا. "تم الإبلاغ عن الكافيين كمسبب للصداع النصفي، لكن كل شخص يختلف. الكافيين يمكن أن يسبب أيضًا لـ women who are planning to become pregnant. The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made..
Patient information leaflet
غازات الدم الشرياني
There are many reasons why this might happen. For example, this may be because of a neurological or muscular disease - myasthenia gravis , Guillain-Barré syndrome , الحثل العضلي , or a problem with the respiratory system such as an asthma attack or worsening of chronic obstructive pulmonary disease (COPD). Causes of respiratory alkalosis.
Patient information leaflet
الجنف والحداب
Scoliosis is a back condition that causes the (back) spine to curve to the side - either left or right. Most cases develop in children between the ages of 9 and 14 years during the growth spurt of puberty. This means the curve is caused by a condition which affects muscles or nerves of the back. For example, it may happen in some people with.
قراءة إضافية ومراجع
- LMNA-related congenital muscular dystrophy; MedlinePlus, National Library of Medicine.
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المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 مايو 2018 | نُشر في الأصل
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