The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.
[scielo.br]
The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin.
[ruralneuropractice.com]
People with CAV3 -related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood
[ghr.nlm.nih.gov]
• Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities of variable specificity.
[medlink.com]
hand Disproportionately small hands 0200055 Smooth philtrum 0000319 Splenomegaly Increased spleen size 0001744 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Telangiectasia
[rarediseases.info.nih.gov]
hand Not very common - Between 30% and 50% cases High, narrow palate And 72 more phenotypes.
[mendelian.co]
The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin.
[scielo.br]
[…] muscles of the hands are not affected Weakness of the shoulder girdle muscles, which may occur on one side than the other.
[rarediseases.info.nih.gov]
The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles1,4.
[scielo.br]
In periodic paralysis muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.
[ajns.paans.org]
hand Disproportionately small hands 0200055 Syncope Fainting spell 0001279 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triangular face Face with broad temples
[rarediseases.info.nih.gov]
Hypertelorism, small mandible, tooth crowding, and small hands were also observed. Table 1 provides a summary of the clinical characteristics of our patients. Table 1.
[frontiersin.org]
The EMG shows a myopathic pattern and the muscle biopsy reveals dystrophic changes without the presence of rimmed vacuoles and absent dysferlin.
[ruralneuropractice.com]
Sign in Published on Oct 12, 2015 This is 26 year old man. right thigh muscle biopsy shows dystrophic changes. All muscle stains were performed. Dysferlin was absent.
[youtube.com]
[…] muscles of the hands are not affected Weakness of the shoulder girdle muscles, which may occur on one side than the other.
[rarediseases.info.nih.gov]
[…] thigh muscles with minimal subcutaneous and intra-abdominal fat tissue. ( D ) H&E stain of biopsied skeletal muscle from P4 showed dystrophic changes, including marked variation
[jci.org]
X-rays of the hands revealed periosteal thickening, with osteopenia of the lower ends of the radius and ulna and the small bones of hands [Figure 2].
[ijdvl.com]
Lateral shows beaked nose,small ear, and marked retrognathia. The hands show acrogeric skin changes, short distal phalanges and camptodactyly of t
[max.book118.com]
Small hand muscle weakness was slight or inexistent in previously described patients [2].
[ncbi.nlm.nih.gov]
Small hand muscle weakness was slight or inexistent in previously described patients [ 2 ].
[bmcclinpathol.biomedcentral.com]
Differently from other LGMD2G patients, however, he presented tremor on the hands at his first examination, which significance in the myopathic context of his disease is still
[ncbi.nlm.nih.gov]
The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.
[scielo.br]
The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin.
[ruralneuropractice.com]
[…] muscles of the hands are not affected Weakness of the shoulder girdle muscles, which may occur on one side than the other.
[rarediseases.info.nih.gov]
Other outcomes and observations may include abnormally small hands and feet with unusually prominent veins on the trunk, short stature.
[wikivisually.com]
People with this type also have other symptoms, such as: Fast heartbeat or other irregular heart rhythm Curved spine (scoliosis) Webbed fingers and toes Small hands and feet
[webmd.com]
[…] mandible, short stature, brachydactyly, microcephaly, short palpebral fissures, thin upper lip, small hands/feet, residual primary dentition, delayed bone age [16] ATS McManis
[translational-medicine.com]
modest elevation of serum creatine kinase (2-5x), muscle biopsy showing fiber size variation (with atrophy) and presence of rimmed vacuoles and congophilic protein aggregates
[orpha.net]
The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin.
[scielo.br]
[…] muscles of the hands; The infantile form [MIM*160300] and the Swedish later-onset [MIM*160500] are autosomal dominant.
[medical-dictionary.thefreedictionary.com]
Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.
[genecards.org]
with slow progression to involve all small hand muscles and the lower legs.
[mendelian.co]
Intestinal rupture; or Uterine rupture during pregnancy; or Presence or history of at least two of the following: Acrogeria (aged appearance to extremities, particularly hands
[aetna.com]
Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles.
[ncbi.nlm.nih.gov]
Like our family, they had elevated serum creatine kinase levels and muscle biopsies showed dystrophic changes with basophilic rimmed vacuoles.
[brain.oxfordjournals.org]
It affects the small muscles, such as those in the face, jaw, neck and hands. Myotonic dystrophy may start at any age from birth to old age.
[patient.info]
Serum creatine kinase was elevated, muscle biopsy showed dystrophic changes, and there were abnormalities in brain MRI.
[ncbi.nlm.nih.gov]
It affects the small muscles, such as those in the face, jaw, neck and hands. Myotonic dystrophy may start at any age from birth to old age.
[patient.info]
The muscle biopsy showed dystrophic changes with negative expression of merosin (laminin α2), thereby confirming merosin-deficient congenital muscular dystrophy.
[ncbi.nlm.nih.gov]
biopsies show presence of numerous rimmed vacuoles in affected muscles without inflammation.
[neurologyindia.com]
A muscle biopsy of the right deltoid showed an increased size variability, fibre splitting, and the presence of internal nuclei; several fib res (8%) contained vacuoles
[functionalneurology.com]
[…] of progression varies among different populations and also within the families. [1], [5], [8], [9] Creatine kinase (CK) is usually slightly or moderately elevated ( [9] Muscle
[neurologyindia.com]
Immunofluorescent microscopy of TMD and control biopsies. (A) HSPA5 staining showed the presence of cytoplasmic granular dots in non-vacuolated TMD muscle fibres.
[journals.plos.org]
An EMG shows myopathic changes. Muscle biopsy shows dystrophic changes, rimmed vacuoles, and extensive myofibrillar changes.
[practicalneurology.com]
Serum CK was normal or slightly elevated, while muscle MRI showed fatty degeneration of the affected muscles and muscle biopsy revealed frequent rimmed vacuoles and dystrophic
[ncbi.nlm.nih.gov]
Small hands with short and thin digits. Fig. 2.
[karger.com]
(very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin
[whonamedit.com]
The most prominent dysmorphic features were microcephaly, facial and dental anomalies, and small hands and feet. Bone age was markedly retarded.
[ncbi.nlm.nih.gov]
Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some
[malacards.org]
hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.
[informatics.jax.org]
hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. https://www.ncbi.nlm.nih.gov/pubmed
[zfin.org]
hands and feet.
[ebi.ac.uk]
hands and feet. [ NCIT : C130992 ] Tree view Term mappings Preferred root terms All terms This is just here as a test because I lose it Term information Subsets gard_rare
[ebi.ac.uk]
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism
[scienceopen.com]
hands and feet, mild dysmorphology, and behavior problems which can be severe.
[curlie.org]
People with PWS have short stature, small hands and feet, and intellectual disability.
[urmc.rochester.edu]
[…] uncontrolled, hypogonadism and incomplete sexual development, developmental delays, variable degrees of mental retardation or functional retardation, short stature (adult), small
[curlie.org]
It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity
[ncbi.nlm.nih.gov]
hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis.
[ncbi.nlm.nih.gov]
Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic
[ncbi.nlm.nih.gov]
Muscle biopsy showed dystrophic changes with absent staining for merosin.
[pediatricneurosciences.com]
• Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities of variable specificity.
[medlink.com]
His echocardiogram showed normal findings [Figure 2]. His serum CPK level was 2120 U/l and MRI of the brain showed similar findings with other patients.
[pediatricneurosciences.com]
Cranial magnetic resonance imaging showed cerebellar cysts and hypoplasia of the vermis and muscle biopsy showed dystrophic changes.
[cags.org.ae]
• Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities of variable specificity.
[medlink.com]
Patients show congenital hypotonia, muscle weakness, and dystrophic changes on muscle biopsy.
[hal.archives-ouvertes.fr]
Muscle biopsy showed dystrophic changes with absent staining for merosin.
[pediatricneurosciences.com]
Muscle biopsy shows dystrophic changes. While rare in North America, the condition is common in Japan with an incidence approaching 40% of DMD (93).
[academlib.com]
showing dystrophic changes, was not characteristic of this disease.
[myslide.es]
Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.
[basicmedicalkey.com]
Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986 ).
[mendelian.co]
Early manifestations of weakness in small hand muscles and then spread to the distal leg muscles with foot drop.
[neuroweb.us]
Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger
[orpha.net]
hand Talipes equinovarus Abnormality of the musculature ... ...
[familydiagnosis.com]
Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral
[orpha.net]
[…] anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella
[orpha.net]
Soft Tissue - Endomysial fibrosis - Rigidity - Muscle biopsy shows dystrophic changes - Granular deposits in the sarcomeres - Stiffness - Z-band streaming - Muscle hypertonicity
[mnglabs.com]
[…] progressive - Onset in first 8 weeks of life - Death usually in the first 2 years of life Molecular Basis - Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0005 ) Muscle
[mnglabs.com]
The patient did not complain of skeletal muscle weakness. A muscle biopsy showed mild dystrophic changes and a low proportion of dystrophin‐negative fibres.
[doi.org]
Flat mid-face, small nose, anteverted nares. Shortening of all limb segments w/ relatively normal hands. Bell-shaped thorax w/ protuberant abdomen.
[quizlet.com]
Intestinal rupture; or Uterine rupture during pregnancy; or Presence or history of at least two of the following: Acrogeria (aged appearance to extremities, particularly hands
[aetna.com]
hands and feet.
[mendelian.co]
]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Seizures, infantile-onset; Hypsarrhythmia; Mental retardation, profound
[genome.jp]
hands and feet, eye/vision anomalies, and global developmental delay. 6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to
[mendelian.co]
Biopsy shows dystrophic changes.
[doctorlib.info]
with slow progression to involve all small hand muscles and the lower legs.
[mendelian.co]
The results of muscle biopsy performed at age 16 months showed dystrophic changes.
[jamanetwork.com]