Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Both cytogenetically visible and cryptic deletions of the terminal region of chromosome 22q are associated with a clinical phenotype including mental retardation, delay in expressive speech development, hypotonia, normal to accelerated growth and minor facial dysmorphic features. The genes responsible for the development of the phenotype have not yet been identified, but a distal localization is probable, since the cytogenetically visible and the cryptic deletions show a similar pattern of symptoms. We report a 33-year-old woman with a submicroscopic 22q13 deletion, mild mental retardation, speech delay, autistic symptoms and mild facial dysmorphic features. The deletion was mapped by FISH using cosmid probes from terminal 22q13, and the size of the deletion was estimated to be 100 kb. Three genes are affected by the deletion in this patient. ACR and RABL2B are deleted and proSAP2 is disrupted. This observation, together with recently published data, supports the notion that proSAP2 is the most important contributor to the 22q13 deletion phenotype.
 ...
PMID:FISH-mapping of a 100-kb terminal 22q13 deletion. 1207 14

Patients with chronic widespread pain often present with musculo-skeletal pain and therefore often initially contact an orthopaedist. For these patients fibromyalgia syndrome is an important differential diagnosis. Recommendations for the diagnosis of and therapy for fibromyalgia syndrome based on the recent German S3 guidelines for fibromyalgia syndrome (AWMF registration number 041/004) are outlined in this paper. These guidelines were developed under the coordination of the German interdisciplinary association for pain management DIVS and two patient support groups. The history of a typical symptom complex and the exclusion of relevant somatic causes for the pain are epecially relevant for the diagnosis of fibromyalgia syndrome. Besides the exclusion of relevant orthopaedic causes for the pain, psycho-social aspects should always be evaluated. According to the modified ACR criteria 2010, chronic widespread pain and accompanying sleep disturbances and a physical as well as mental state of exhaustion lead to the diagnosis of fibromyalgia syndrome. It is not mandatory to check tender points (ACR 1990 criteria). A graduated treatment approach depending on the severity level of the fibromyalgia syndrome in the individual patient is recommended. Active treatment options (aerobic training, meditative movement therapies, strength training) should be preferred to any drug therapy in the long-term treatment of fibromyalgia. If indicated, amitryptiline or duloxetine may be used to treat accompanying depressive or generalised anxiety disorder. Muscle relaxant medication, non-steroidal anti-inflammatory drugs and strong opioids should be avoided. The multimodal pain therapy considering all psycho-social aspects is a promising treatment option for fibromyalgia syndrome of moderate to high severity.
...
PMID:[Fibromyalgia syndrome - updated s3 guidelines]. 2434 15

Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescent in situ hybridization (FISH) technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.
 ...
PMID:A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder. 2828 94