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Results: 1 to 20 of 37

1.

Walker-Warburg congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype. [from GeneReviews]

MedGen UID:
75553
Concept ID:
C0265221
Disease or Syndrome
2.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Walker-Warburg syndrome

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities. [from ORDO]

MedGen UID:
799710
Concept ID:
CN206340
Disease or Syndrome
4.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
5.

Abnormal glycosylation

An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. [from HPO]

MedGen UID:
507203
Concept ID:
CN180065
Finding
6.

Congenital muscular dystrophy

MedGen UID:
505584
Concept ID:
CN003380
Finding
7.

Carrier screening

MedGen UID:
488660
Concept ID:
CN165677
Disease or Syndrome
8.

Founder Mutation

A gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the mutant gene. This phenomenon is often called a founder effect. [from NCI]

MedGen UID:
457661
Concept ID:
C2985435
Cell or Molecular Dysfunction
9.

Muscular dystrophy

MedGen UID:
351199
Concept ID:
C1864711
Finding
10.

Wieacker syndrome

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013). [from OMIM]

MedGen UID:
163227
Concept ID:
C0796200
Disease or Syndrome
11.

Congenital muscular dystrophy

The congenital muscular dystrophies (CMDs) are a group of rare heterogeneous muscle diseases caused by genetically defined mutations leading to protein deficiencies that result in disturbed interactions between the extracellular matrix (ECM) and muscle cells. In CMD, ECM involvement leads to traditional muscular dystrophy mechanisms of sarcolemmal instability and novel mechanisms driven by primary matrix, intracellular and intranuclear pathology leading to degeneration, fibrosis, apoptosis, failed regeneration and failed muscle differentiation. In the CMDs, common pathology at the level of the muscle basal lamina of defective ECM-muscle interaction creates a shared CMD phenotype, with infant to childhood onset of hypotonia and muscle weakness typically followed by progressive contractures, nutritional deficiencies, scoliosis and respiratory insufficiency. Brain involvement may be present in certain subtypes and may manifest as seizures, mental retardation, learning and speech disability with or without structural brain malformation. Possible additional eye abnormalities include cataracts, myopia and retinal detachment. CMD onset within the first 2 years of life presumes intrauterine muscle disease pathology (developmental hit) compounded by ongoing postnatal stresses and perturbations. CMD subtypes can be subdivided into extracellular and intracellular localization of the affected protein. The three most common forms of CMD affect proteins localized in the extracellular matrix with abnormalities in the three genes coding for collagen 6, laminin a2 (part of laminin 211 heterotrimer) and hypoglycosylation of a-dystroglycan, an important receptor for laminin 211 and other ECM components on the surface of muscle cells and in the brain. Intracellularly localized proteins include RYR1, the calcium release channel of the sarcoplasmic reticulum and selenoprotein 1 (SEPN1), likely involved in the cellular response to oxidative stress. Lamin A/C, an intermediate filament of the inner nuclear envelope protein also may present with a congenital muscular dystrophy phenotype. [from CureCMD]

MedGen UID:
147063
Concept ID:
C0699743
Disease or Syndrome
12.

Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone (previously type II) lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy, with a poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech retardation, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement in individuals older than age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death. [from GeneReviews]

MedGen UID:
140820
Concept ID:
C0410174
Disease or Syndrome
13.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
14.

Muscular dystrophy

Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
15.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI_NCI-GLOSS]

MedGen UID:
5539
Concept ID:
C0019409
16.

Chronic granulomatous disease

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
17.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
18.

Spinobulbar atrophy

MedGen UID:
156268
Concept ID:
C0752353
Disease or Syndrome
19.

Muscular Disorders, Atrophic

Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL). [from MeSH]

MedGen UID:
156267
Concept ID:
C0752352
Disease or Syndrome
20.

Disuse muscle atrophy

MedGen UID:
75533
Concept ID:
C0264122
Disease or Syndrome

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