Malnutrition is a condition that results from eating a diet in which nutrients are either not enough or are too much such that the diet causes health problems. It may involve calories, protein, carbohydrates, vitamins or minerals. Not enough nutrients is called undernutrition or undernourishment while too much is called overnutrition. Malnutrition is often used to specifically refer to undernutrition where an individual is not getting enough calories, protein, or micronutrients. If undernutrition occurs during pregnancy, or before two years of age, it may result in permanent problems with physical and mental development. Extreme undernourishment, known as starvation, may have symptoms that include: a short height, thin body, very poor energy levels, and swollen legs and abdomen. People also often get infections and are frequently cold. The symptoms of micronutrient deficiencies depend on the micronutrient that is lacking.

Undernourishment is most often due to not enough high-quality food being available to eat. This is often related to high food prices and poverty. A lack of breastfeeding may contribute, as may a number of infectious diseases such as: gastroenteritis, pneumonia, malaria, and measles, which increase nutrient requirements. There are two main types of undernutrition: protein-energy malnutrition and dietary deficiencies. Protein-energy malnutrition has two severe forms: marasmus (a lack of protein and calories) and kwashiorkor (a lack of just protein). Common micronutrient deficiencies include: a lack of iron, iodine, and vitamin A. During pregnancy, due to the body's increased need, deficiencies may become more common. In some developing countries, overnutrition in the form of obesity is beginning to present within the same communities as undernutrition. Other causes of malnutrition include anorexia nervosa and bariatric surgery.

Efforts to improve nutrition are some of the most effective forms of development aid. Breastfeeding can reduce rates of malnutrition and death in children, and efforts to promote the practice increase the rates of breastfeeding. In young children, providing food (in addition to breastmilk) between six months and two years of age improves outcomes. There is also good evidence supporting the supplementation of a number of micronutrients to women during pregnancy and among young children in the developing world. To get food to people who need it most, both delivering food and providing money so people can buy food within local markets are effective. Simply feeding students at school is insufficient. Management of severe malnutrition within the person's home with ready-to-use therapeutic foods is possible much of the time. In those who have severe malnutrition complicated by other health problems, treatment in a hospital setting is recommended. This often involves managing low blood sugar and body temperature, addressing dehydration, and gradual feeding. Routine antibiotics are usually recommended due to the high risk of infection. Longer-term measures include: improving agricultural practices, reducing poverty, improving sanitation, and the empowerment of women.

There were 793 million undernourished people in the world in 2015 (13% of the total population). This is a reduction of 216 million people since 1990 when 23% were undernourished. In 2012 it was estimated that another billion people had a lack of vitamins and minerals. In 2015, protein-energy malnutrition was estimated to have resulted in 323,000 deaths—down from 510,000 deaths in 1990. Other nutritional deficiencies, which include iodine deficiency and iron deficiency anemia, result in another 83,000 deaths. In 2010, malnutrition was the cause of 1.4% of all disability adjusted life years. About a third of deaths in children are believed to be due to undernutrition, although the deaths are rarely labelled as such. In 2010, it was estimated to have contributed to about 1.5 million deaths in women and children, though some estimate the number may be greater than 3 million. An additional 165 million children were estimated to have stunted growth from malnutrition in 2013. Undernutrition is more common in developing countries. Certain groups have higher rates of undernutrition, including women—in particular while pregnant or breastfeeding—children under five years of age, and the elderly. In the elderly, undernutrition becomes more common due to physical, psychological, and social factors.

Kwashiorkor is mainly caused by inadequate protein intake. The main symptoms are edema, wasting, liver enlargement, hypoalbuminaemia, steatosis, and possibly depigmentation of skin and hair. Kwashiorkor is further identified by swelling of the belly, which is deceiving of actual nutritional status. The term means ‘displaced child’ and is derived from a Ghana language of West Africa, means "the sickness the older one gets when the next baby is born," as this is when the older child is deprived of breast feeding and weaned to a diet composed largely of carbohydrates.

There are three commonly used measures for detecting malnutrition in children:

- stunting (extremely low height for age),

- underweight (extremely low weight for age), and

- wasting (extremely low weight for height).

These measures of malnutrition are interrelated, but studies for the World Bank found that only 9 percent of children exhibit stunting, underweight, and wasting.

Children with severe acute malnutrition are very thin, but they often also have swollen hands and feet, making the internal problems more evident to health workers.

Children with severe malnutrition are very susceptible to infection.

Malnutrition in children – here understood as undernutrition – is common globally and results in both short and long term irreversible negative health outcomes including stunted growth which may also be linked to cognitive development deficits, underweight and wasting. The World Health Organization (WHO) estimates that malnutrition accounts for 54 percent of child mortality worldwide, about 1 million children. Another estimate also by WHO states that childhood underweight is the cause for about 35% of all deaths of children under the age of five years worldwide.

The main causes are unsafe water, inadequate sanitation or insufficient hygiene, factors related to society and poverty, diseases, maternal factors, gender issues and – overall – poverty.

Starvation is a severe deficiency in caloric energy intake, below the level needed to maintain an organism's life. It is the most extreme form of malnutrition. In humans, prolonged starvation can cause permanent organ damage and eventually, death. The term inanition refers to the symptoms and effects of starvation. Starvation may also be used as a means of torture or execution.

According to the World Health Organization, hunger is the single gravest threat to the world's public health. The WHO also states that malnutrition is by far the biggest contributor to child mortality, present in half of all cases. Undernutrition is a contributory factor in the death of 3.1 million children under five every year. Figures on actual starvation are difficult to come by, but according to the Food and Agriculture Organization, the less severe condition of undernourishment currently affects about 842 million people, or about one in eight (12.5%) people in the world population.

The bloated stomach, as seen in the adjacent picture, represents a form of malnutrition called kwashiorkor which is caused by insufficient protein despite a sufficient caloric intake. Better medicine will prevent the pictured symptoms in which included is weight loss and muscle wasting from further taking form.

Protein–energy malnutrition (PEM) refers to a form of malnutrition which is defined as a range of pathological conditions arising from coincident lack of protein and/or energy in varying proportions.The condition vary in forms ranging from mild through moderate to severe degrees.

Types include:

- Kwashiorkor (protein malnutrition predominant)

- Marasmus (deficiency in calorie intake)

- Marasmic Kwashiorkor (marked protein deficiency and marked calorie insufficiency signs present, sometimes referred to as the most severe form of malnutrition)

PEM is fairly common worldwide in both children and adults and accounts for 6 million deaths annually. In the industrialized world, PEM is predominantly seen in hospitals, is associated with disease, or is often found in the elderly.

Note that PEM may be secondary to other conditions such as chronic renal disease or cancer cachexia in which protein energy wasting may occur.

Protein–energy malnutrition affects children the most because they have less protein intake. The few rare cases found in the developed world are almost entirely found in small children as a result of fad diets, or ignorance of the nutritional needs of children, particularly in cases of milk allergy.

Early symptoms include impulsivity, irritability, and hyperactivity. Atrophy (wasting away) of the stomach weakens the perception of hunger, since the perception is controlled by the percentage of the stomach that is empty. Individuals experiencing starvation lose substantial fat (adipose tissue) and muscle mass as the body breaks down these tissues for energy. "Catabolysis" is the process of a body breaking down its own muscles and other tissues in order to keep vital systems such as the nervous system and heart muscle (myocardium) functioning. The energy deficiency inherent in starvation causes fatigue and renders the victim more apathetic over time. As the starving person becomes too weak to move or even eat, their interaction with the surrounding world diminishes. In females, menstruation ceases when the body fat percentage is too low to support a fetus.

Victims of starvation are often too weak to sense thirst, and therefore become dehydrated. All movements become painful due to muscle atrophy and dry, cracked skin that is caused by severe dehydration. With a weakened body, diseases are commonplace. Fungi, for example, often grow under the esophagus, making swallowing painful. Vitamin deficiency is also a common result of starvation, often leading to anemia, beriberi, pellagra, and scurvy. These diseases collectively can also cause diarrhea, skin rashes, edema, and heart failure. Individuals are often irritable and lethargic as a result.

There is insufficient scientific data on exactly how long people can live without food. Although the length of time varies with an individual's percentage of body fat and general health, one medical study estimates that in adults complete starvation leads to death within 8 to 12 weeks. There are isolated cases of individuals living up to 25 weeks without food. Starvation begins when an individual has lost about 30% of their normal body weight. Once the loss reaches 40% death is almost inevitable.

Obesity is caused by eating too many calories compared to the amount of exercise the individual is performing, causing a distorted energy balance. It can lead to diseases such as cardiovascular disease and diabetes. Obesity is a condition in which the natural energy reserve, stored in the fatty tissue of humans and other mammals, is increased to a point where it is associated with certain health conditions or increased mortality.

The low-cost food that is generally affordable to the poor in affluent nations is low in nutritional value and high in fats, sugars and additives. In rich countries, therefore, obesity is often a sign of poverty and malnutrition while in poorer countries obesity is more associated with wealth and good nutrition. Other non-nutritional causes for obesity included: sleep deprivation, stress, lack of exercise, and heredity.

Acute overeating can also be a symptom of an eating disorder.

Goitrogenic foods can cause goitres by interfering with iodine uptake.

Vitamin poisoning is the condition of overly high storage levels of vitamins, which can lead to toxic symptoms. The medical names of the different conditions are derived from the vitamin involved: an excess of vitamin A, for example, is called "hypervitaminosis A".

Iron overload disorders are diseases caused by the overaccumulation of iron in the body. Organs commonly affected are the liver, heart and endocrine glands in the mouth.

Stunted growth, also known as stunting and nutritional stunting, is a reduced growth rate in human development. It is a primary manifestation of malnutrition (or more precisely undernutrition) and recurrent infections, such as diarrhea and helminthiasis, in early childhood and even before birth, due to malnutrition during fetal development brought on by a malnourished mother. The definition of stunting according to the World Health Organisation (WHO) is for the "height for age" value to be less than two standard deviations of the WHO Child Growth Standards median.

As of 2012 an estimated 162 million children under 5 years of age, or 25%, were stunted in 2012. More than 90% of the world's stunted children live in Africa and Asia, where respectively 36% and 56% of children are affected. Once established, stunting and its effects typically become permanent. Stunted children may never regain the height lost as a result of stunting, and most children will never gain the corresponding body weight. Living in an environment where many people defecate in the open due to lack of sanitation, is an important cause of stunted growth in children, for example in India.

Protein malnutrition is detrimental at any point in life, but protein malnutrition prenatally has been shown to have significant lifelong effects. During pregnancy, one should aim for a diet that consists of at least 20% protein for the health of the fetus. Diets that consist of less than 6% protein "in utero" have been linked with many deficits, including decreased brain weight, increased obesity, and impaired communication within the brain in some animals. Even diets of mild protein malnutrition (7.2%) have been shown to have lasting and significant effects in rats. The following are some studies in which prenatal protein deficiency has been shown to have unfavorable consequences.

- Decreased brain size: Protein deficiency has been shown to affect the size and composition of brains in rhesus monkeys. Monkeys whose mother had eaten a diet with an adequate amount of protein were shown to have no deficit in brain size or composition, even when their body weight amounted to less than one-half of that of the controls, whereas monkeys whose mothers had eaten low-protein diets were shown to have smaller brains regardless of the diet given after birth.

- Impaired neocortical long-term potentiation: Mild protein deficiency (in which 7.2% of the diet consists of protein) in rats has been shown to impair entorhinal cortex plasticity (visuospatial memory), noradrenergic function in the neocortex, and neocortical long-term potentiation.

- Altered fat distribution: Protein undernutrition can have varying effects depending on the period of fetal life during which the malnutrition occurred. Although there were not significant differences in the food intake, there were increased amounts of perirenal fat in rats that were protein-deprived during early (gestation days 0–7) and mid (gestation days 8–14) pregnancy, and throughout pregnancy, whereas rats that were protein-deprived only late in gestation (gestation days 15–22) were shown to have increased gonadal fat.

- Increased obesity: Mice exposed to a low-protein diet prenatally weighed 40% less than the control group at birth (intrauterine growth retardation). When fed a high-fat diet after birth, the prenatally undernourished mice were shown to have increased body weight and adiposity (body fat), while those who were adequately nourished prenatally did not show an increase in body weight or adiposity when fed the same high-fat diet after birth.

- Decreased birth weight, and gestation duration: Supplementation of protein and energy can lead to increased duration of gestation and higher birth weight. When fed a supplement containing protein, energy, and micronutrients, pregnant women showed more successful results during birth, including high birth weights, longer gestations, and fewer pre-term births, than women who had consumed a supplement with micronutrients and low energy but no protein (although this finding may be due to the increase of energy in the supplements, not the increase of protein).

- Increased stress sensitivity: Male offspring of pregnant rats fed low-protein diets have been shown to exhibit blood pressure that is hyperresponsive to stress and salt.

- Decreased sperm quality: A low-protein diet during gestation in rats has been shown to affect the sperm quality of the male offspring in adulthood. The protein deficiency appeared to reduce sertoli cell number, sperm motility, and sperm count.

- Altered cardiac energy metabolism: Prenatal nutrition, specifically protein nutrition, may affect the regulation of cardiac energy metabolism through changes in specific genes.

- Increased passive stiffness: Intrauterine undernutrition was shown to increase passive stiffness in skeletal muscles in rats.

From these studies it is possible to conclude that prenatal protein nutrition is vital to the development of the fetus, especially the brain, the susceptibility to diseases in adulthood, and even gene expression. When pregnant females of various species were given low-protein diets, the offspring were shown to have many deficits. These findings highlight the great significance of adequate protein in the prenatal diet.

Growth stunting is identified by comparing measurements of children's heights to the World Health Organization 2006 growth reference population: children who fall below the fifth percentile of the reference population in height for age are defined as stunted, regardless of the reason. The lower than fifth percentile corresponds to less than two standard deviations of the WHO Child Growth Standards median.

As an indicator of nutritional status, comparisons of children's measurements with growth reference curves may be used differently for populations of children than for individual children. The fact that an individual child falls below the fifth percentile for height for age on a growth reference curve may reflect normal variation in growth within a population: the individual child may be short simply because both parents carried genes for shortness and not because of inadequate nutrition. However, if substantially more than 5% of an identified child population have height for age that is less than the fifth percentile on the reference curve, then the population is said to have a higher-than-expected prevalence of stunting, and malnutrition is generally the first cause considered.

Obesity in Mexico is a relatively recent phenomenon, having been widespread since the 1980s with the introduction of processed food into much of the Mexican food market. Prior to that, dietary issues were limited to under and malnutrition, which is still a problem in various parts of the country. Following trends already ongoing in other parts of the world, Mexicans have been foregoing traditional whole grains and vegetables in favor of a diet with more animal products, more fat, and more sugar much of which is a consequence of processed food. It has seen dietary energy intake and rates of overweight and obese people rise with seven out of ten at least overweight and a third clinically obese.

Until the late 20th century, dietary issues in Mexico were solely a question of undernutrition or malnutrition, generally because of poverty and distribution issues. For this reason, obesity was associated with wealth and health, the latter especially in children. Despite changes in the Mexican diet and food distribution, malnutrition still remains problematic in various parts of the country.

Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health. People are generally considered obese when their body mass index (BMI), a measurement obtained by dividing a person's weight by the square of the person's height, is over , with the range defined as overweight. Some East Asian countries use lower values. Obesity increases the likelihood of various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, osteoarthritis and depression.

Obesity is most commonly caused by a combination of excessive food intake, lack of physical activity, and genetic susceptibility. A few cases are caused primarily by genes, endocrine disorders, medications, or mental disorder. The view that obese people eat little yet gain weight due to a slow metabolism is not generally supported. On average, obese people have a greater energy expenditure than their normal counterparts due to the energy required to maintain an increased body mass.

Obesity is mostly preventable through a combination of social changes and personal choices. Changes to diet and exercising are the main treatments. Diet quality can be improved by reducing the consumption of energy-dense foods, such as those high in fat and sugars, and by increasing the intake of dietary fiber. Medications may be used, along with a suitable diet, to reduce appetite or decrease fat absorption. If diet, exercise, and medication are not effective, a gastric balloon or surgery may be performed to reduce stomach volume or length of the intestines, leading to feeling full earlier or a reduced ability to absorb nutrients from food.

Obesity is a leading preventable cause of death worldwide, with increasing rates in adults and children. In 2015, 600 million adults (12%) and 100 million children were obese. Obesity is more common in women than men. Authorities view it as one of the most serious public health problems of the 21st century. Obesity is stigmatized in much of the modern world (particularly in the Western world), though it was seen as a symbol of wealth and fertility at other times in history and still is in some parts of the world. In 2013, the American Medical Association classified obesity as a disease.

Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health. It is defined by body mass index (BMI) and further evaluated in terms of fat distribution via the waist–hip ratio and total cardiovascular risk factors. BMI is closely related to both percentage body fat and total body fat.

In children, a healthy weight varies with age and sex. Obesity in children and adolescents is defined not as an absolute number but in relation to a historical normal group, such that obesity is a BMI greater than the 95th percentile. The reference data on which these percentiles were based date from 1963 to 1994, and thus have not been affected by the recent increases in weight. BMI is defined as the subject's weight divided by the square of their height and is calculated as follows.

BMI is usually expressed in kilograms per square metre, resulting when weight is measured in kilograms and height in metres. To convert from pounds per square inch multiply by .

The most commonly used definitions, established by the World Health Organization (WHO) in 1997 and published in 2000, provide the values listed in the table.

Some modifications to the WHO definitions have been made by particular organizations. The surgical literature breaks down class II and III obesity into further categories whose exact values are still disputed.

- Any BMI ≥ 35 or 40 kg/m is "severe obesity".

- A BMI of ≥ 35 kg/m and experiencing obesity-related health conditions or ≥40–44.9 kg/m is "morbid obesity".

- A BMI of ≥ 45 or 50 kg/m is "super obesity".

As Asian populations develop negative health consequences at a lower BMI than Caucasians, some nations have redefined obesity; Japan have defined obesity as any BMI greater than 25 kg/m while China uses a BMI of greater than 28 kg/m.

Anorexia nervosa is an eating disorder characterized by attempts to lose weight, to the point of starvation. A person with anorexia nervosa may exhibit a number of signs and symptoms, the type and severity of which may vary and may be present but not readily apparent.

Anorexia nervosa, and the associated malnutrition that results from self-imposed starvation, can cause complications in every major organ system in the body. Hypokalaemia, a drop in the level of potassium in the blood, is a sign of anorexia nervosa. A significant drop in potassium can cause abnormal heart rhythms, constipation, fatigue, muscle damage and paralysis.

Symptoms may include:

- A low body mass index for one's age and height.

- Amenorrhea, a symptom that occurs after prolonged weight loss; causes menses to stop, hair becomes brittle, and skin becomes yellow and unhealthy.

- Fear of even the slightest weight gain; taking all precautionary measures to avoid weight gain or becoming "overweight".

- Rapid, continuous weight loss.

- Lanugo: soft, fine hair growing over the face and body.

- An obsession with counting calories and monitoring fat contents of food.

- Preoccupation with food, recipes, or cooking; may cook elaborate dinners for others, but not eat the food themselves or consume a very small portion.

- Food restrictions despite being underweight or at a healthy weight.

- Food rituals, such as cutting food into tiny pieces, refusing to eat around others and hiding or discarding of food.

- Purging: May use laxatives, diet pills, ipecac syrup, or water pills to flush food out of their system after eating or may engage in self-induced vomiting though this is a more common symptom of bulimia.

- Excessive exercise including micro-exercising, for example making small persistent movements of fingers or toes.

- Perception of self as overweight, in contradiction to an underweight reality.

- Intolerance to cold and frequent complaints of being cold; body temperature may lower (hypothermia) in an effort to conserve energy due to malnutrition.

- Hypotension or orthostatic hypotension.

- Bradycardia or tachycardia.

- Depression, anxiety disorders and insomnia.

- Solitude: may avoid friends and family and become more withdrawn and secretive.

- Abdominal distension.

- Halitosis (from vomiting or starvation-induced ketosis).

- Dry hair and skin, as well as hair thinning.

- Chronic fatigue.

- Rapid mood swings.

- Having feet discoloration causing an orange appearance.

- Having severe muscle tension + aches and pains.

- Evidence/habits of self harming or self-loathing.

- Admiration of thinner people.

Interoception has an important role in homeostasis and regulation of emotions and motivation. Anorexia has been associated with disturbances to interoception. People with anorexia concentrate on distorted perceptions of their body exterior due to fear of looking overweight. Aside from outer appearance, they also report abnormal bodily functions such as indistinct feelings of fullness. This provides an example of miscommunication between body and brain. Further, people with anorexia experience abnormally intense cardiorespiratory sensations, particularly of the breath, most prevalent before they consume a meal. People with anorexia also report inability to distinguish emotions from bodily sensations in general, called alexithymia. In addition to metacognition, people with anorexia also have difficultly with social cognition including interpreting other’s emotions, and demonstrating empathy. Abnormal interoceptive awareness like these examples have been observed so frequently in anorexia that they have become key characteristics of the illness.

Swelling (especially in the hands and face) was originally considered an important sign for a diagnosis of pre-eclampsia. However, because swelling is a common occurrence in pregnancy, its utility as a distinguishing factor in pre-eclampsia is not high. Pitting edema (unusual swelling, particularly of the hands, feet, or face, notable by leaving an indentation when pressed on) can be significant, and should be reported to a health care provider.

In general, none of the signs of pre-eclampsia are specific, and even convulsions in pregnancy are more likely to have causes other than eclampsia in modern practice. Further, a symptom such as epigastric pain may be misinterpreted as heartburn. Diagnosis, therefore, depends on finding a coincidence of several pre-eclamptic features, the final proof being their regression after delivery.

Pre-eclampsia (PE) is a disorder of pregnancy characterized by the onset of high blood pressure and often a significant amount of protein in the urine. The condition begins after 20 weeks of pregnancy. In severe disease there may be red blood cell breakdown, a low blood platelet count, impaired liver function, kidney dysfunction, swelling, shortness of breath due to fluid in the lungs, or visual disturbances. Pre-eclampsia increases the risk of poor outcomes for both the mother and the baby. If left untreated, it may result in seizures at which point it is known as eclampsia.

Risk factors for pre-eclampsia include obesity, prior hypertension, older age, and diabetes mellitus. It is also more frequent in a woman's first pregnancy and if she is carrying twins. The underlying mechanism involves abnormal formation of blood vessels in the placenta amongst other factors. Most cases are diagnosed before delivery. Rarely, pre-eclampsia may begin in the period after delivery. While historically both high blood pressure and protein in the urine were required to make the diagnosis, some definitions also include those with hypertension and any associated organ dysfunction. Blood pressure is defined as high when it is greater than 140 mmHg systolic or 90 mmHg diastolic at two separate times, more than four hours apart in a woman after twenty weeks of pregnancy. Pre-eclampsia is routinely screened for during prenatal care.

Recommendations for prevention include: aspirin in those at high risk, calcium supplementation in areas with low intake, and treatment of prior hypertension with medications. In those with pre-eclampsia delivery of the baby and placenta is an effective treatment. When delivery becomes recommended depends on how severe the pre-eclampsia and how far along in pregnancy a person is. Blood pressure medication, such as labetalol and methyldopa, may be used to improve the mother's condition before delivery. Magnesium sulfate may be used to prevent eclampsia in those with severe disease. Bedrest and salt intake have not been found to be useful for either treatment or prevention.

Pre-eclampsia affects 2–8% of pregnancies worldwide. Hypertensive disorders of pregnancy (which include pre-eclampsia) are one of the most common causes of death due to pregnancy. They resulted in 46,900 deaths in 2015. Pre-eclampsia usually occurs after 32 weeks; however, if it occurs earlier it is associated with worse outcomes. Women who have had pre-eclampsia are at increased risk of heart disease and stroke later in life. The word eclampsia is from the Greek term for lightning. The first known description of the condition was by Hippocrates in the 5th century BC.

Children who are healthy but have a slower rate of physical development than average have constitutional delay of growth and puberty. These children have a history of stature shorter than their age-matched peers throughout childhood, but their height is appropriate for bone age, and skeletal development is delayed more than 2.5 SD. They usually are thin and often have a family history of delayed puberty. Children with a combination of a family tendency toward short stature and constitutional delay of growth and puberty are the most likely to seek evaluation. They quite often seek evaluation when classmates or friends undergo pubertal development and growth, thereby accentuating their delay.

It is often difficult to establish if it is a true constitutional delay of growth and puberty or if there is an underlying pathology, because biochemical tests are not always discriminatory. Short stature, delayed growth in height and weight, and/or delayed puberty may be the only clinical manifestations of coeliac disease, in absence of any other symptoms.

Usually, the first respiratory symptoms are dyspnea and paradoxical respirations which then escalate within the first few months of life to diaphragmatic paralysis. The symptoms of diaphragmatic paralysis come on very rapidly and without warning, and the patient is often rushed to a hospital where they are placed on a ventilator for respiratory support. Due to the severe nature of diaphragmatic paralysis the patient eventually needs continuous ventilation support to survive. Continuous ventilation, however, may in itself cause damage to the anatomy of the lungs.

In addition to diaphragmatic paralysis other issues may arise: as the name suggests, the distal limbs are most affected with symptoms of weakness, restricting mobility due to (near-)paralysis of the distal limbs as well as the head and neck. Also, dysfunction of the peripheral nerves and the autonomic nervous system may occur. Due to these dysfunctions the patients have been shown to suffer from excessive sweating and irregular heartbeat. The deep tendon reflex is also lost in patients with DSMA1.

Uterine growth retardation and poor foetal movement have been observed in severe DSMA1 cases.

Delayed puberty is described as delayed puberty with exceptions when an organism has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning. Puberty may be delayed for several years and still occur normally, in which case it is considered constitutional delay of growth and puberty, a variation of healthy physical development. Delay of puberty may also occur due to malnutrition, many forms of systemic disease, or to defects of the reproductive system (hypogonadism) or the body's responsiveness to sex hormones.