phenylephrine-hydrochloride and Muscle-Spasticity

Evaluation of coordination with the Finger-Nose Test is an essential part of the neurological examination. This study explored the convergent and discriminant construct validity of the Standardized Finger-Nose Test (SFNT) in a neuromuscular disorder with ataxic features.. A cross-sectional study was carried out with 24 participants with recessive spastic ataxia of Charlevoix-Saguenay. Convergent construct validity was tested by correlating the SFNT with other upper extremity function tests, a functional independence measure and social participation. Upper extremity function tests included gross and fine dexterity (Box and Block Test and Purdue Pegboard), upper extremity strength (dynamometry) and global upper extremity performance (TEMPA). The Functional Independence Measure (FIM) and the Assessment of Life Habits scale (LIFE-H) measured functional independence and social participation respectively. Discriminant construct validity was explored by comparing performance on the SFNT between two age groups (< 40 years and > or = 40 years).. Convergent validity of the SFNT was demonstrated by moderate to strong correlations with gross and fine finger dexterity (r = 0.82-0.84), global upper extremity performance (0.74-0.79), functional independence (r = 0.74) and social participation (r = 0.78). Upper extremity coordination of the older group was significantly lower than in the younger group, suggesting the ability of the SFNT to discriminate between different levels of function.. This study demonstrated the convergent and discriminant construct validity of the SFNT in a neuromuscular disorder with ataxic features.

Topics: Activities of Daily Living; Adolescent; Adult; Ataxia; Cross-Sectional Studies; Disability Evaluation; Female; Fingers; Hereditary Sensory and Motor Neuropathy; Humans; Male; Middle Aged; Motor Skills; Muscle Spasticity; Muscle, Skeletal; Nose; Reproducibility of Results

In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc.

Topics: Brachydactyly; Child; DNA-Binding Proteins; Dysarthria; Exome; Female; Fingers; Hair Diseases; Heat-Shock Proteins; High-Throughput Nucleotide Sequencing; Humans; Langer-Giedion Syndrome; Male; Muscle Spasticity; Nose; Nuclear Proteins; Receptors, Cytoplasmic and Nuclear; Repressor Proteins; Spastic Paraplegia, Hereditary; Spinocerebellar Ataxias; Transcription Factors

In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define.. In this report, a case of median craniofacial dysraphia is described.. At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery.. The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

Topics: Cerebellum; Cleft Lip; Cleft Palate; Cranial Sutures; Craniofacial Abnormalities; Encephalocele; Holoprosencephaly; Humans; Hypertelorism; Infant; Male; Muscle Spasticity; Nose; Radiography; Syndrome