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Disease List:

3 6 A B C D E F G H I J K L M N O P R S T U V W Z

Hypophosphatasia, ALPL-Related

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What is Hypophosphatasia, ALPL-Related?

Hypophosphatasia, ALPL-Related is a disorder inherited in either an autosomal recessive or autosomal dominant pattern that causes weakened bones and teeth. Symptoms vary from person to person and may start in infancy or not until later in childhood or adulthood. Infants with the severe form of this disorder have short bowed limbs, an abnormally shaped chest, and soft skull bones. Other symptoms may include feeding difficulties, growth delays, breathing problems, too much calcium in the blood, vomiting, and kidney disease, which can sometimes be life-threatening. In some cases symptoms do not start until later childhood or early adulthood, are often less severe, and can include early loss of baby teeth and then adult teeth, bowed legs, repeated bone fractures, softening of the bones (osteomalacia), short stature, and enlarged painful joints. Some people with a milder form of this condition typically only have abnormalities of the teeth, excess cavities, and early loss of teeth with no other symptoms.

What causes Hypophosphatasia, ALPL-Related?

Hypophosphatasia, ALPL-Related is caused by a gene change, or mutation, in one or both copies of the ALPL gene pair. The mutation or mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the mild or severe symptoms described above. People who have a mutation in one copy of the ALPL gene but not the other may have mild symptoms of Hypophosphatasia or may have no symptoms at all. 

Inclusion Body Myopathy 2

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What is Inclusion Body Myopathy 2?

Inclusion Body Myopathy 2 is an autosomal recessive disorder that causes progressive muscle weakness in the legs and arms. Signs and symptoms of this disorder usually start in the late teenage years or early twenties but some people do not have problems until their thirties or forties.  The first symptom is typically weakness in the muscles of the lower leg.  As these muscles slowly weaken, walking becomes more difficult. The ability to walk is usually lost about 20 years after symptoms first appear.  Muscle weakness worsens and starts to affect the muscles of the hips, hands, shoulders, neck, and occasionally the face.  Intelligence is not affected.  A small number of people with the gene mutations that cause this condition never show symptoms.  Currently there is no cure for Inclusion Body Myopathy 2 and treatment is based on symptoms.

Very rarely, a mutation in the same gene will cause a separate disorder called Sialuria, which is inherited in a different manner. Symptoms of Sialuria are variable but include jaundice at birth, enlarged liver and spleen, and a type of anemia that causes very small red blood cells (microcytic anemia). Children with this condition have repeated respiratory infections and digestive problems. Some affected children also have seizures, learning disabilities, and episodes of dehydration. Some people with Sialuria have very mild symptoms that tend to improve as they get older.  

What causes Inclusion Body Myopathy 2?

Inclusion Body Myopathy 2 is caused by a gene change, or mutation, in both copies of the GNE gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it results in the symptoms described above.

Sialuria, a very rare disorder, is inherited in an autosomal dominant manner. Individuals with a Sialuria-causing mutation in just one copy of the GNE gene will be affected with Sialuria.  

Infantile Cerebral and Cerebellar Atrophy

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What is Infantile Cerebral and Cerebellar Atrophy?

Infantile Cerebral and Cerebellar Atrophy is an autosomal recessive disorder that affects the brain.  Signs and symptoms begin in infancy and include small head size, abnormal brain development, seizures, feeding problems, and failure to grow at the normal rate.  Affected children do not achieve developmental milestones and have severe intellectual disability.  Currently there is no cure for this disorder and treatment is based on symptoms.

What causes Infantile Cerebral and Cerebellar Atrophy?

Infantile Cerebral and Cerebellar Atrophy is caused by a gene change, or mutation, in both copies of the MED17 gene pair.  These mutations cause the genes to not work properly or not work at all. The MED17 genes are important for brain development.  When both copies of this gene do not work correctly, it leads abnormal development of the brain and to the symptoms described above. 

Isovaleric Acidemia

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What is Isovaleric Acidemia?

Isovaleric Acidemia is a type of autosomal recessive condition known as an organic acid disorder.  People with Isovaleric Acidemia have problems breaking down an amino acid called leucine from the food they eat.  This inability to breakdown proteins that contain leucine causes harmful substances to build up in their blood and urine.  The symptoms of Isovaleric Acidemia range from mild to severe.  In the severe form signs and symptoms can begin in the first days of life and include poor appetite, lethargy (extreme tiredness), vomiting, a “sweaty feet” smell, and seizures.  Early death may occur if the condition is not treated.  Children with a milder form of Isovaleric Acidemia may have failure to grow and gain weight at the typical rate and may have delayed development.  Most people with Isovaleric Acidemia need lifelong dietary and medical treatment.  However, there are rare individuals with Isovaleric Acidemia who never show symptoms. 

What causes Isovaleric Acidemia?

Isovaleric Acidemia is caused by a gene change, or mutation, in both copies of the IVD gene pair.  These mutations cause the genes to not work properly or not work at all.  The function of the IVD genes is to break down a particular building block of protein (amino acid) called leucine.  When both copies of this gene do not work correctly it leads to a toxic buildup of organic acids in the blood and causes the symptoms described above.

Joubert Syndrome 2/Meckel Syndrome 2

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What is Joubert Syndrome 2/Meckel Syndrome 2?

Joubert Syndrome 2 (also known as Cerebellooculorenal Syndrome 2) is an autosomal recessive disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome 2 begin in infancy and include rapid breathing, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children have intellectual disability that ranges from mild to severe, gait problems (ataxia), vision problems, and may have seizures, liver, and/or kidney disease.

Sometimes, specific mutations in the same gene cause a related autosomal recessive disorder called Meckel Syndrome 2. Signs and symptoms of Meckel Syndrome 2 include severe brain abnormalities such as encephalocele (bulging of part of the brain through an opening in the back of the skull), cysts on the liver and kidneys, extra fingers and toes, developmental delay, and intellectual disability. Some babies with Meckel Syndrome 2 also have a cleft lip and/or palate, underdeveloped eyes, and genital abnormalities. There is no cure for either of these disorders and lifespan is shortened.

What causes Joubert Syndrome 2/Meckel Syndrome 2?

Joubert Syndrome 2 and Meckel Syndrome are caused by a change, or mutation, in both copies of the TMEM216 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. 

Juvenile Retinoschisis, X-Linked

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What is Juvenile Retinoschisis, X-Linked?

Juvenile Retinoschisis, X-Linked is an X-linked inherited condition that causes vision loss and occurs mainly in males. Males with this condition have slowly progressive loss of sight in childhood, usually identified by school age. Retinoschisis refers to the splitting of a part of the eye called the retina; this leads to progressive central vision loss from childhood to early adulthood. Vision then remains stable until 50 or 60 years of life, after which time it may significantly worsen. About half of males with this condition have loss of peripheral (side) vision. Some affected boys are unable to focus on an object (strabismus) and have involuntary eye movements (nystagmus). A small percentage of affected males will develop retinal detachment (separation of the retina) or bleeding in the blood vessels of the retina which can cause blindness.

What causes Juvenile Retinoschisis, X-Linked?

Juvenile Retinoschisis, X-Linked is caused by a change, or mutation, in the RS1 gene. This mutation causes the gene to not work properly or not work at all. The RS1 gene is important for the development and health of the retina. When this gene does not work correctly in a male, it leads to the symptoms described above. 

Krabbe Disease

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What is Krabbe Disease?

Krabbe Disease is an autosomal recessive disorder.  It is one type of inherited condition called a leukodystrophy that affects the brain and nervous system.  Signs and symptoms usually begin in the first year of life and include irritability, poor muscle tone, stiff muscles, loss or delayed development of skills, hearing loss, vision loss, and failure to grow and gain weight at the expected rate. Symptoms worsen with time and affect swallowing and breathing, and seizures may develop.  Death usually occurs by two years of age.   

Some affected individuals will have onset of symptoms in later childhood or early adulthood.  These individuals can have vision loss, hearing loss, stiff muscles, and problems with walking and movement. The symptoms of the later onset form vary from person to person and disease progression is slower.  Currently there is no cure for this disorder and treatment is based on symptoms.

What causes Krabbe Disease?

Krabbe Disease is caused by a gene change, or mutation, in both copies of the GALC gene pair.  These mutations cause the gene to not work properly or not work at all. The normal function of the GALC genes is to help maintain myelin, a protective coating on the nerves in the body. When both of these genes do not work correctly, it leads to the symptoms described above. 

Lamellar Ichthyosis, Type 1

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What is Lamellar Ichthyosis, Type 1?

Lamellar Ichthyosis, Type 1 is an autosomal recessive disorder that affects the skin.  Children with this disorder are born with a clear fitted covering over their body called a collodion membrane.  After about 10 to 14 days of life this membrane peels off, leaving skin that is covered with white or brownish scales.  Eyelids and lips may turn outward, fingernails and toenails may develop abnormally and hair loss may occur.  Affected infants may develop skin infections, dehydration, and breathing problems, and in some cases, serious joint problems.  Some infants will have improvement of their skin condition with time, and for others the skin problems may be lifelong. 

Rarely, specific mutations in the same gene pair causes a different type of ichthyosis, either ‘Self-Improving Collodion Ichthyosis’ in which affected babies are born with a collodion membrane but  typically do not have severe lifelong skin problems, or ‘Bathing Suit Ichthyosis’ in which dark gray skin scales affect only the trunk area and not the limbs or face. 

What causes Lamellar Ichthyosis, Type 1?

Lamellar Ichthyosis, Type 1 is caused by a gene change, or mutation, in both copies of the TGM1 gene pair.  These mutations cause the genes to not work properly or not work at all. The normal function of the TGM1 genes is to help in the development of the skin. When both copies of this gene do not work correctly it leads to the symptoms described above. 

Leber Congenital Amaurosis 2

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What is Leber Congenital Amaurosis 2?

Leber Congenital Amaurosis 2 is an autosomal recessive disorder that causes vision loss. Eyesight problems begin in infancy. The vision loss worsens over time and by adulthood affected individuals have total blindness. Affected individuals may also have sensitivity to light, abnormal eye movements (nystagmus), and may have behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin cornea (clear outer covering of the eye) may also be present.

Very rarely, later onset of vision loss occurs, starting with loss of night vision in childhood. The vision loss progresses over time to include peripheral (side) vision, then central vision. This rare form of the disorder is called Retinitis Pigmentosa 20. Currently there is no cure for these conditions.

What causes Leber Congenital Amaurosis 2?

Leber Congenital Amaurosis 2 is caused by a gene change, or mutation, in both copies of the RPE65 gene. These mutations cause the genes to not work properly or not work at all. The normal function of the RPE65 gene is important in the development of the retina (tissue at the back of the eye that processes light and color). When both copies of this gene pair do not work correctly, it leads to the vision loss symptoms described above. 

Leber Congenital Amaurosis, Type CEP290

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What is Leber Congenital Amaurosis, Type CEP290?

Leber Congenital Amaurosis, Type CEP290 is an autosomal recessive disorder that causes vision loss.  Eyesight problems begin in infancy. Vision loss worsens over time and by adulthood people with this condition have total blindness.  Other symptoms may include sensitivity to light, abnormal eye movements (nystagmus), and behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin corneas (clear outer covering of the eye) may also be present. 

Rarely, mutations in the same pair of genes that cause Leber Congenital Amaurosis, Type CEP290 may instead cause one of a number of related genetic disorders including Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome, and Senior-Loken Syndrome. The symptoms of these conditions are similar to each other and often overlap.  Meckel Syndrome causes serious birth defects and most children do not live past infancy.  Symptoms of Bardet-Biedl and Joubert Syndrome include multiple birth defects of the brain and other organs, developmental delay and intellectual disability, vision loss, and kidney problems as well as other health problems. Senior-Loken Syndrome has the same symptoms as Leber Congenital Amaurosis but also includes kidney disease that worsens with time.

What causes Leber Congenital Amaurosis, Type CEP290?

Leber Congenital Amaurosis, Type CEP290 is caused by a gene change, or mutation, in both copies of the CEP290 gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly it leads to the symptoms described above. 

Leber Congenital Amaurosis, Type LCA5

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What is Leber Congenital Amaurosis, Type LCA5?

Leber Congenital Amaurosis, Type LCA5 is an autosomal recessive disorder that causes severe vision loss. Eyesight problems begin in infancy. The vision loss may stay the same or may worsen slowly over time. Affected individuals may also have sensitivity to light, abnormal eye movements (nystagmus), and may have behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin cornea (clear outer covering of the eye) may also be present.

What causes Leber Congenital Amaurosis, Type LCA5?

Leber Congenital Amaurosis, Type LCA5 is caused by a gene change, or mutation, in both copies of the LCA5 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the LCA5 gene is important in the development of the retina (tissue at the back of the eye that processes light and color). When both copies of this gene do not work correctly, it leads to the vision loss symptoms described above. 

Leber Congenital Amaurosis, Type RDH12

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What is Leber Congenital Amaurosis, Type RDH12?

Leber Congenital Amaurosis, Type RDH12 (also called Leber Congenital Amaurosis 13) is an autosomal recessive disorder that causes vision loss.  Eyesight problems begin in early childhood. The vision loss worsens over time and by adulthood people with this condition may have total blindness.  People with Leber Congenital Amaurosis, Type RDH12 may also have sensitivity to light, abnormal eye movements (nystagmus), and may have behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin cornea (clear outer covering of the eye) may also be present. 

Very rarely, specific mutations in the same gene pair cause a different form of vision loss, called Retinitis Pigmentosa 13, causing later onset of vision loss, starting with loss of night vision in childhood. The vision loss in Retinitis Pigmentosa 13 progresses over time to include peripheral (side) vision, then central vision.  Currently there is no cure for these conditions. 

What causes Leber Congenital Amaurosis, Type RDH12?

Leber Congenital Amaurosis, Type RDH12 is caused by a gene change, or mutation, in both copies of the RDH12 gene pair.  These mutations cause the genes to not work properly or not work at all. The normal function of the RDH12 gene is important in the development of the retina (tissue at the back of the eye that processes light and color). When both copies of this gene do not work correctly, it leads to the vision loss symptoms described above. 

It is sometimes, but not always, possible to determine whether a specific mutation in the RDH12 gene will cause Leber Congenital Amaurosis, Type RDH12 or Retinitis Pigmentosa 13. 

Leigh Syndrome, French-Canadian Type

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What is Leigh Syndrome, French-Canadian Type?

Leigh Syndrome, French-Canadian Type is an autosomal recessive disorder that affects the brain and nervous system.  Signs and symptoms begin in infancy and include developmental delay, unusual facial features, poor muscle tone, failure to grow at the expected rate, feeding problems, and abnormal movements.  Symptoms worsen with time.  Brain abnormalities may be seen on brain imaging tests such as MRI.  Affected infants can have life-threatening health problems including seizures and breathing problems.  A thickening of the heart muscle (hypertrophic cardiomyopathy) may occur.  Death often occurs in infancy or early childhood. Currently there is no cure for this condition and treatment is based on symptoms.

What causes Leigh Syndrome, French-Canadian Type?

Leigh Syndrome, French-Canadian Type is caused by a gene change, or mutation, in both copies of the LRPPRC gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the LRPPRC genes is to help make energy in the cells in the body. When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Lethal Congenital Contracture Syndrome 1

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What is Lethal Congenital Contracture Syndrome 1?

Lethal Congenital Contracture Syndrome 1 is an autosomal recessive disorder that affects the brain, muscles, and joints. Signs and symptoms of Lethal Congenital Contracture Syndrome 1 are present before birth and include lack of muscle development, joints in the limbs that do not move, severe swelling (hydrops), and underdeveloped lungs. Most affected fetuses die before birth or are stillborn. A slightly less severe form of this condition, called Lethal Arthrogryposis with Anterior Horn Cell Disease, has similar symptoms that include lack of movement during pregnancy, stiffness of the joints, and severe breathing problems. Most infants with Lethal Arthrogryposis with Anterior Horn Cell Disease are live born but usually die in infancy due to severe breathing problems. Currently there is no cure for either form of this disorder.

What causes Lethal Congenital Contracture Syndrome 1?

Lethal Congenital Contracture Syndrome 1 is caused by a gene change, or mutation, in both copies of the GLE1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work properly, it leads to the symptoms described above. 

Leukoencephalopathy with Vanishing White Matter

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What is Leukoencephalopathy with Vanishing White Matter?

Leukoencephalopathy with Vanishing White Matter is an autosomal recessive disorder that affects the brain and nervous system.  Signs and symptoms of this disorder usually begin in early childhood and begin with difficulty with movement and coordination and loss of developmental milestones that worsen over time.  Affected children can have stiff muscles, seizures, and intellectual disability.  A severe increase in symptoms can happen after mild head injury.  “Vanishing white matter” refers to the progressive loss of brain tissue that can be seen on brain imaging tests such as MRI in people with this condition.  The severe form of this condition has symptoms that start in infancy and leading to death in infancy or early childhood.  Some people may have a milder form with symptoms beginning in adolescence. Psychiatric problems are more common in later onset forms.   

What causes Leukoencephalopathy with Vanishing White Matter?

Leukoencephalopathy with Vanishing White Matter is caused by a gene change, or mutation, in both copies of the EIF2B5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the EIF2B5 gene pair do not work correctly, it leads to the symptoms described above. 

Limb-Girdle Muscular Dystrophy, Type 2A

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What is Limb-Girdle Muscular Dystrophy, Type 2A?

Limb-Girdle Muscular Dystrophy, Type 2A is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy, Type 2A causes weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Onset of symptoms varies between age 2 to age 40, but often starts in adolescence or early adulthood. Muscle weakness leads to difficulty in walking, running, and getting up from the floor.  The muscle weakness usually worsens very slowly with age.  Over time, some people with this condition need the use of a wheelchair. Currently, there is no cure for this condition and treatment is based on symptoms.

What causes Limb-Girdle Muscular Dystrophy, Type 2A?

Limb-Girdle Muscular Dystrophy, Type 2A is caused by a gene change, or mutation, in both copies of the CAPN3 gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene are not working correctly, it leads to the symptoms described above.

Limb-Girdle Muscular Dystrophy, Type 2B

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What is Limb-Girdle Muscular Dystrophy, Type 2B?

Limb-Girdle Muscular Dystrophy, Type 2B is autosomal recessive.  It is one of a group of autosomal recessive disorders that affect the muscles of the hips and shoulders. Limb-Girdle Muscular Dystrophy, Type 2B causes progressive weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Onset of symptoms varies but usually starts in adolescence or early adulthood. Muscle weakness usually worsens very slowly with age and leads to problems in walking, running, and getting up from the floor.  Over time, some people with this condition need the use of a wheelchair. Currently, there is no cure for this condition and treatment is based on symptoms.

Rarely, mutations in the same pair of genes that cause Limb-Girdle Muscular Dystrophy, Type 2B instead cause a related disorder, either Miyoshi Myopathy or Distal Myopathy with Anterior Tibial Onset.  Miyoshi Myopathy is most common in people of Japanese ancestry and causes progressive weakness and wasting of the leg and arm muscles, with leg muscles being more severely affected.  Distal Myopathy with Anterior Tibial Onset includes progressive weakness of the leg muscles, beginning with the lower leg muscles and later the upper leg muscles, eventually leading to the need for a wheelchair. 

What causes Limb-Girdle Muscular Dystrophy, Type 2B?

Limb-Girdle Muscular Dystrophy, Type 2B is caused by a gene change, or mutation, in both copies of the DYSF gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above.

Limb-Girdle Muscular Dystrophy, Type 2C

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What is Limb-Girdle Muscular Dystrophy, Type 2C?

Limb-Girdle Muscular Dystrophy, Type 2C is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders.  Over time, Limb-Girdle Muscular Dystrophy, Type 2C leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair.  Problems with the joints and the heart and breathing difficulties may also occur.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Limb-Girdle Muscular Dystrophy, Type 2C?

Limb-Girdle Muscular Dystrophy, Type 2C is caused by a gene change, or mutation, in both copies of the SGCG gene pair.  These mutations cause the genes to not work properly or not work at all.  Normal function of the SGCG genes is important for healthy muscle development. When both copies of the SGCG gene do not work correctly, it leads to the symptoms described above. 

Limb-Girdle Muscular Dystrophy, Type 2D

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What is Limb-Girdle Muscular Dystrophy, Type 2D?

Limb-Girdle Muscular Dystrophy, Type 2D is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders.  Over time, Limb-Girdle Muscular Dystrophy, Type 2D leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood or early adulthood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair.  Less commonly, problems with the joints and the heart and breathing difficulties may occur.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Limb-Girdle Muscular Dystrophy, Type 2D?

Limb-Girdle Muscular Dystrophy, Type 2D is caused by a gene change, or mutation, in both copies of the SGCA gene pair.  These mutations cause the genes to not work properly or not work at all.  Normal function of the SGCA gene is important for healthy muscle development. When both copies of the SGCA gene do not work correctly, it leads to the symptoms described above. 

Limb-Girdle Muscular Dystrophy, Type 2E

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What is Limb-Girdle Muscular Dystrophy, Type 2E?

Limb-Girdle Muscular Dystrophy, Type 2E is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders.  Over time, Limb-Girdle Muscular Dystrophy, Type 2E leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood or early adulthood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor.  Over time, some people with this condition need the use of a wheelchair.  Less commonly, problems with the joints and the heart and breathing difficulties may occur.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Limb-Girdle Muscular Dystrophy, Type 2E?

Limb-Girdle Muscular Dystrophy, Type 2E is caused by a gene change, or mutation, in both copies of the SGCB gene pair.  These mutations cause the genes to not work properly or not work at all.  Normal function of the SGCB genes is important for healthy muscle development.  When both copies of the SGCB gene pair do not work correctly, it leads to the symptoms described above. 

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