Clinical presentation of ALS Initial presentation of ALS is asymmetric extremity weakness that affects the upper or lower limbs. Foot drop or lateral hand weakness and atrophy are the initial common presentations. [lecturio.com]

Dysphagia is present and Rombergism and pseudoathetosis are observed. NCVs and nerve biopsy reveal demyelinating and axonal features. Anti-GD1b or GQ1b (consistently present) antibodies, IgM paraproteins and cold agglutinins are present. [neuroweb.us]

Corneal abnormalities such as opacities or sclerocornea may be present. [disorders.eyes.arizona.edu]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

Skin abnormalities present as inflamed reddish patches that are covered by large, waxy, yellowish scales. [rarediseases.org]

• Trisomy 21

  First semester screening for trisomies 21 and 18. N Engl J Med. 2003;349:1405-13. Gessner BD. Reasons for trisomy 13 or 18 births despite availability of prenatal diagnosis and pregnancy termination. Early Hum Dev. 2003;73:53-60. [rarediseases.org]

  There are a few well recognised syndromes associated with autosomal trisomies - Down's syndrome (Trisomy 21), Edward's syndrome (Trisomy 18) and Patau's syndrome (Trisomy 13). [oandplibrary.org]

• Atrial Septal Defect

  Hydrocephalus 174 Frequent Pneumonia 174 Facial Asymmetry 173 Atrial Septal Defect 171 Hair Loss 169 Low Set Ears 166 Lung (Absent Or Underdeveloped) 164 Cleft Lip 164 External Ear Or Ears (Absent of Malformed) 162 Oppositional Defiant Disorder 158 Spina [birthdefects.org]

  The cardiac lesion, may be an atrial septal defect (common), ventricular septal defect, patent ductus arteriosus or mitral-valve prolapse, There is no correlation between the severity of the limb defect and the cardiac defect. [oandplibrary.org]

  septal defect sinus venosus Limb-girdle muscular dystrophy type 1A Neural tube defects Dubin-Johnson syndrome Ring chromosome 15 Schaefer Stein Oshman syndrome Mesomelic dwarfism cleft palate camptodactyly Mac Dermot Winter syndrome Lathosterolosis Mitochondrial [checkrare.com]

• Broad Thumb

  thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Trismus-pseudocamptodactyly syndrome Trisomy Xq28 Tuberous sclerosis complex Turner [se-atlas.de]

  […] erythrocytosis, 1 Larsen-like syndrome Duane syndrome Rasmussen Johnsen Thomsen syndrome Cor triatriatum dexter Anal sphincter dysplasia Delayed membranous cranial ossification Yellow nail syndrome Biliary atresia Isolated ectopia lentis Infantile spasms broad [checkrare.com]

• Coarctation of the Aorta

  […] of the aorta); and/or abnormalities of certain heart valves. [rarediseases.org]

• Cyanosis

  Shock Extensive purpura, cyanosis, circulatory collapse. RENAL KEMMELSTIEL-WILSON SYNDROME: Diabetic Glomerulosclerosis. [doctorslounge.com]

• Hearing Problem

  Pediatricians, orthopedic surgeons, craniofacial specialists, and geneticists who assess and treat skeletal disorders, as well as other specialists who asses and treat hearing problems (audiologists) may need to systematically and comprehensively plan [rarediseases.org]

• Short Neck

  The chick had passive congestion and a markedly enlarged heart ( P87 .1.w2) A Grus paradisea - Blue crane had a short neck due to the presence of several fused vertebrae; it lived for five years before fracturing the neck. ( P76 .1989.w2) Doubled nails [wildpro.twycrosszoo.org]

  pectus excavatum, winging of scapula HEAD: excess skin on nape, low post hairline, high ant hairline, macrocephaly, traingular face, short webbed neck EYES: hypertelorism, ptosis, epicanthal folds, refractory errors EARS: low-set, posteriorly rotated [quizlet.com]

  Cranial nerve paralysis Spondyloepiphyseal dysplasia Abnormality of the lower limb Abnormality of femur morphology Lower limb undergrowth Progressive cataract Limitation of joint mobility Duplication involving bones of the feet Short neck Talipes equinovarus [mendelian.co]

  KLIPPEL-FEIL SYNDROME: Cervical vertebrate fused Congenital short neck, limited neck rotation Abnormalities of the brainstem and cerebellum Low hairline. [doctorslounge.com]

  Many patients have additional signs such as malformations of the biliary tree, cleft palate (and/or lip), sloping forehead, low-set ears, short neck, low-set ears, ambiguous genitalia, and short, bowed limb bones. [disorders.eyes.arizona.edu]

• Cryptorchidism

  Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. [mendelian.co]

  As mentioned above, in males with the disorder, the testes fail to descend into the scrotum (cryptorchidism). Trisomy 18 syndrome may also be associated with additional genital abnormalities. [rarediseases.org]

  The child was also suffering from microphthalmia, microcornea, small pupils, bilateral cataract, cryptorchidism and congenital talipes equinovarus. Abdomen and cardiac ultrasound were negative. [omicsonline.org]

  Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism [se-atlas.de]

  […] syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids cryptorchidism [checkrare.com]

• Slurred Speech

  Similar brief episodes of numbness or weakness of a limb or difficulty in speech suggest an attack in the carotid artery, while a brief reduction in consciousness, vertigo, slurred speech, impaired vision in both eyes, or imbalance may signify ischemia [britannica.com]

Workup If spinal cord disease is in the differential, an MRI of the cord is essential and should be done emergently. An LP is helpful in neuropathies and in spinal cord disease. [pedclerk.bsd.uchicago.edu]

Treatment Treatment Options: None other than rehabilitation. [disorders.eyes.arizona.edu]

At present, there is no treatment for this condition. [afb.org]

Treatment There is no known cure and treatment is focused on rehabilitation and slowing of muscle weakness. [lecturio.com]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

Diagnosis - Leg absence deformity cataract * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Leg absence deformity cataract Not supplied. Treatment - Leg absence deformity cataract Not supplied. [checkorphan.org]

(Outcomes/Resolutions) The prognosis with Imperforate Anus, depends on the number and degrees of coexisting, congenital abnormalities (if any) present Children with minor defects have an excellent prognosis Proper diet control and avoidance of constipation [dovemed.com]

Management Prenatally and following birth, resuscitation decisions should be discussed with the family and based on the child's prognosis. [patient.info]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

Prognosis Symptoms vary from person to person and for one person through time. The long-term prognosis is extremely variable. One person may exhibit mild symptoms, while another person may become wheelchair-bound or require a kidney transplant. [healthofchildren.com]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation. [dysnet.org]

With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or bifid bones, synostoses, duplications, dislocations, or other bony defects; for example, in proximal femoral focal deficiency, the proximal femur [merckmanuals.com]

Introduction Neurologists focus on identifying the location of the pathologic lesion as the first step in determining etiology. [pedclerk.bsd.uchicago.edu]

(Etiology) The exact cause of Imperforate Anus occurrence is still unknown An abnormal development of the fetus (intrauterine fetal development) is the general cause for occurrence of this defect. [dovemed.com]

Epidemiology The disease is usually sporadic but is less commonly genetically inherited. It is the most common disorder of the motor neuron system. [lecturio.com]

Epidemiology Incidence BRA is thought to occur in 1 in 5,000 births whilst unilateral renal agenesis (URA) is more common and occurs in about 1 in 1,000. [ 4 ] An Italian study showed a 5:2 male:female ratio. [ 5 ] Potter's original series similarly showed [patient.info]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female > male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.com]

Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23:856-60. Wagner R, Thom E, Simpson JL, et al. First semester screening for trisomies 21 and 18. [rarediseases.org]

Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet., 27, 353-357. Donnai, D., Hughes, H. E., Winter, R. M. (1987). Postaxial acrofacial dysostosis (Miller) syndrome. J. [oandplibrary.org]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

Prevention - Leg absence deformity cataract Not supplied. Diagnosis - Leg absence deformity cataract * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Leg absence deformity cataract Not supplied. [checkorphan.org]

There are no means for prevention of the condition; it can only be rectified through appropriate surgical treatment. [dovemed.com]

Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss [babyhearing.org]

0.75 mg/kg/day) indications 5 to 7-year-old child with progressive disease goals to maintain ambulatory capacity as long as possible outcomes significant positive effect on disease progression acutely improves strength, slows progressive weakening, prevents [orthobullets.com]

Prevention Genetic counseling can be offered to persons who have the disease. Parents with this disease have a 50 percent chance of passing it to each of their children. [healthofchildren.com]