Presentation
However, the clinical appearances of scapuloperoneal spinal muscular atrophy and the present disorder make allelism unlikely. In 1994, a second Dutch family with a disorder similar to the present one was described. [wwww.unboundmedicine.com]
The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course. [ncbi.nlm.nih.gov]
The problem arises when an infant presents clinically like SMA but is negative for survival motor neuron gene. A 3-month-old infant presented with paucity of limb movement and weak cry. [content.iospress.com]
Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures. [athenadiagnostics.com]
Acronym SPSMA Synonyms Amyotrophy neurogenic scapuloperoneal New England type Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Entire Body System
- Disproportionate Short Stature
Short Stature: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada TAT : contact lab price : contact lab Disproportionate Short Stature: Deletion [genetests.org]
- Amyloidosis
[…] syndrome Sebocystomatosis Seborrhea-like dermatitis with psoriasiform elements Seborrheic pemphigus SEC23B-CDG Seckel syndrome Secondary acute myeloid leukemia Secondary acute transverse myelitis Secondary alpha-dystroglycanopathy Secondary AML Secondary amyloidosis [orpha.net]
Hematological
- Hemophilia A
A Severe hemophilia B Severe hereditary thrombophilia due to congenital protein C deficiency Severe hereditary thrombophilia due to congenital protein S deficiency Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome [orpha.net]
¼ Upper limb: neurofibroma/schwannoma, metastatic tumor, breast/lung cancer (Pan- Appendix coast tumor)VascularMetabolic ¼ Lower limb: urogenital tumors, cancer of the rectum, lymphomaInflammatory ¼ Lower limb: psoas hematoma due to anticoagulation, hemophilia [fliphtml5.com]
Gastrointestinal
- Failure to Thrive
Most die of respiratory failure in the first year of life. Survivors have failure to thrive and intellectual disability. Spinal cord pathology shows anterior horn cell loss; demyelination may also be present. [ncbi.nlm.nih.gov]
[…] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe generalized RDEB Severe generalized recessive dystrophic epidermolysis bullosa Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Severe Hallermann-Streiff-François [orpha.net]
Musculoskeletal
- Small Hand
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 muscle wasting and weakness. [orpha.net]
- Winged Scapula
Patients present difficulty walking on heels, winged scapulae, and diminished or absent deep tendon reflexes. Other common features reported include vocal cord paralysis, scoliosis, and/or arthrogryposis. [orpha.net]
Neurologic
- Akinesia
[…] price : contact lab Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany TAT : 3-5 weeks price : contact lab Fetal akinesia [genetests.org]
Fetal akinesia with anterior horn cell loss and congenital malformation in male siblings: Severe X-linked spinal muscular atrophy (XL-SMA) or a new disease entity? Abstract 1743. [ncbi.nlm.nih.gov]
Chromaffinoma, Chromaffin paraganglioma, Chromaffin tumor, intra-medullary paraganglioma, Chromaffin cell tumor Pena-Shokeir-Syndrom ( 1 Files ) Erkrankung : Pena-Shokeir-Syndrom ICD 10: Q87.8 Synonyme: Pena-Shokeir-Syndrom, Type l (OMIM 208150), Fetal akinesia [orphananesthesia.eu]
[…] dysfunction and 371Acid maltase deficiency 340, Agyria 381 juvenile 304 402 AIDS see Acquired immuno- sporadic 304Acidosis 162 deficiency syndrome Amyotrophy, neuralgic 321,Acoustic meatus, external 100 Akathisia 66 328, 329Acoustic neuroma 258, 259, Akinesia [fliphtml5.com]
- Areflexia
Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness. [amboss.com]
Hypotonia and weakness are usually noted in the newborn period and can be associated with congenital joint contractures and areflexia. [ncbi.nlm.nih.gov]
IgG antibodies directed against GM1, GD1a, GD1bMiller Fisher syndrome (MFS) Diplopia (usually external ophthalmoplegia), ataxia, areflexia. IgG antibodies to GQ1b5 (Hahn, 1998)1 The most common manifestations are listed. [fliphtml5.com]
- Hyporeflexia
Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness. [amboss.com]
Atten- receptor tuated muscles, skeletal anomalies2, hyporeflexia Nemaline myopathy AD: 1q22–23/Tropomyosin-3 or areflexia; exercise-induced muscle stiffness; (NEM1) AR3/2q22/Nebulin risk of malignant hyperthermia Nemaline myopathy Neonatal hypotonia; [fliphtml5.com]
Treatment
Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.de]
Twelve potentially clinically meaningful treatment benefit... [medworm.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Management and treatment There is no effective treatment to date. [orpha.net]
Prognosis
Prognosis - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Treatment - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. Resources - Amyotrophy- neurogenic scapuloperoneal- New England type [checkorphan.org]
Prognosis The prognosis is not so poor, even if the problems of ambulation predispose to falls, to the development of arthrosic problems, which together with the dysmorphic aspects and the distal weakness contribute to get worse the motor problems. [orpha.net]
Prognosis Progressive muscle weakness usually leads to death by age four for persons with SMA I. Muscle weakness progresses at varying rates in SMA II, and many persons survive into adulthood. [encyclopedia.com]
Prognosis The prognosis for these patients is variable and depends on the underlying cause. [childneurologyfoundation.org]
The older the age of onset, the better the prognosis! [amboss.com]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]
Etiology unknown. Inheritance is either autosomal dominant or X-linked. It is clinically indistinguishable from Kugelberg-Welander (recessive). First described in 1886 by Brossard. Presented as a nosological entity in 1964 by Kaeser. [whonamedit.com]
Etiology The causative gene of SPSMA is TRPV4 (12q23-q24.1), which encodes for a calcium, nonselective cation channel thought to be involved in the regulation of systemic osmotic pressure and mechanosensitivity. [orpha.net]
Arthrogryposis multiplex congenita is etiologically heterogeneous: underlying etiologies can include central nervous system causes, neurogenic effects, fetal constraint, and intrauterine vascular disruption (e.g., amyoplasia). [ncbi.nlm.nih.gov]
Epidemiology
Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
Summary Epidemiology The precise prevalence of Scapuloperoneal spinal muscular atrophy (SPSMA) is not available. To date, more than 30 affected individuals have been described worldwide. Males are more severely affected than females. [orpha.net]
This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive [emedicine.medscape.com]
[…] voor Kinderen SOCIALE FOBIE SOCIAL PHOBIA Zie ook: FOBIEËN PHOBIAS Zie ook: VERLEGENHEID SHYNESS Sociale Fobie Diagnosis of Social Phobia (Social Anxiety Disorder) A good reference site Social Phobia/Social Anxiety Organization Social Phobia Genetic Epidemiology [catsclem.nl]
Pathophysiology
Understanding the molecular mechanism of TRPV4-linked axonal degeneration may provide a pathophysiological basis for design of rational therapies for SPSMA and CMT2C, with possible implications in other neurological diseases. [grantome.com]
Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]
Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2. [emedicine.medscape.com]
Prevention
An early diagnosis of SPSMA may be crucial in order to prevent the more severe congenital form. [ncbi.nlm.nih.gov]
Symptoms - Amyotrophy- neurogenic scapuloperoneal- New England type Causes - Amyotrophy- neurogenic scapuloperoneal- New England type Prevention - Amyotrophy- neurogenic scapuloperoneal- New England type Not supplied. [checkorphan.org]
Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.de]
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 3-5 weeks price : $2,140.00 Charcot Marie Tooth - Comprehensive Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention [genetests.org]