Symptoma

Distal Spinal Muscular Atrophy Type 5

DSMA5

Respiratory onset can present with: Dyspnoea and orthopnoea. [patient.info]

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

Power, bulk, gait, and coordination were intact, but distal hyporeflexia was present. Tinel signs were present at the wrists and elbows. No nerves could be palpated. Hammertoes and high arches were present. [emedicine.medscape.com]

Case Presentation A 20-year-old male with diabetes mellitus type 1 and a known personal history of CMTX1 presented to our emergency department with acute-onset dysarthria, tongue deviation, left facial weakness, and left hand numbness developing over [karger.com]

Chromosomal linkage is present for many others ( Table 88-5 ). [clinicalgate.com]

  • Inflammation

    The effect of local inflammation on this pathway would similarly compound the expression of RANKL. [care.diabetesjournals.org]

    PMID 16769861. v t e Diseases of the nervous system, primarily CNS ( G04–G47, 323–349 ) Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic [en.wikipedia.org]

    Anything that compromises the volume of the carpal tunnel (congenitally small carpal tunnel; thickening of the ligaments; disruption or swelling of the joint; inflammation of the synovium) can promote CTS. [dartmouth.edu]

    His CSF showed no evidence of infection and was negative for oligoclonal bands, intrathecal immunoglobulin synthesis, and other markers of inflammation. [karger.com]

  • Acute Intermittent Porphyria

    Neuropathic porphyrias are caused by the following autosomal dominant enzymatic defects in the hepatic biosynthesis of heme: porphobilinogen (PBG) deaminase (acute intermittent porphyria – AIP); copro oxidase (hereditary coproporphyria – HCP); proto oxidase [neupsykey.com]

    intermittent porphyria Biotinidase deficiency Preaxial polydactyly type 4 Chromosome 10p duplication Familial hyperthyroidism due to mutations in TSH receptor Zadik Barak Levin syndrome Pituitary hormone deficiency, combined 4 Median cleft of upper lip [checkrare.com]

  • Night Blindness

    blindness Microcytic anemia with liver iron overload Oguchi disease 22q11.2 deletion syndrome 2q37 microdeletion syndrome Acrokeratosis verruciformis of Hopf Acute myeloid leukemia with t(8;21)(q22;q22) translocation Adams-Oliver syndrome Aicardi-Goutières [csbg.cnb.csic.es]

    blindness X-linked dystonia-parkinsonism/Lubag Schindler disease type 1 FG syndrome 2 Absence of fingerprints congenital milia 8p23.1 duplication syndrome Biemond syndrome 2 Sjogren-Larsson syndrome Craniofacial dyssynostosis Pseudoxanthoma elasticum [checkrare.com]

  • Lacrimation

    Brachydactyly Mononen type Kniest like dysplasia lethal Pierson syndrome Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Vascular hyalinosis Lujan syndrome Hydrocephalus obesity hypogonadism Tetraamelia with ectodermal dysplasia and lacrimal [checkrare.com]

  • Incontinence

    Incontinence (Urinary and Bowel) The nerves travelling through the spinal cord also supply the bladder and bowel, ensuring the muscles within these organs can contract to contain urine and stools within the body. [physio-pedia.com]

    Acute respiratory failure has been reported. [ 7 ] Some patients with pseudobulbar palsy may have 'emotional incontinence', an over-reaction to sad or funny events that they are aware of as being abnormal. [patient.info]

  • Urinary Incontinence

    incontinence) in some cases uncontrollable bowel (bowel incontinence) Management Medical Management Babies born or children who have developed with hydrocephalus usually require swift treatment to reduce the pressure on their brain. [physio-pedia.com]

  • Hyporeflexia

    Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. [em-consulte.com]

    On examination, most patients with CMT exhibit distally dominant weakness, hyporeflexia, and muscle atrophy affecting the legs earlier and more significantly than the arms. [emedicine.medscape.com]

    Signs LMD dysfunction in the limbs manifests as weakness, atrophy, fasciculations and hyporeflexia. The thighs are often a site of marked fasciculation. [patient.info]

  • Absent Deep Tendon Reflex

    Besides episodes, patients often complain of positional acroparesthesias and disclose reduced or absent deep tendon reflexes and mild pes cavus. [neupsykey.com]

    Depressed or absent deep tendon reflexes were observed at an early stage. Mild-to-moderate sensory impairments occurred in the feet and hands in all the patients. [emedicine.medscape.com]

  • Abnormal Gait

    Early Onset: Severe forms may have infant hypotonia with delayed motor milestones, toe walking and even arthrogryposis; most present before age 20, with clumsiness and abnormal gait. [now.aapmr.org]

Evaluation and treatment of suspected radiculopathy. Figure 3. Evaluation and treatment of suspected radiculopathy. Figure 4. Evaluation and treatment of suspected polyneuropathy (eg, multifocal mononeuropathy). Figure 4. [jaoa.org]

Medical treatment entails use of prokinetic and antiemetic therapies. [gi.org]

SURGICAL TREATMENT Surgical treatment of Charcot arthropathy of the foot and ankle is based primarily on expert opinion. [care.diabetesjournals.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available. [em-consulte.com]

Since cumulative fixed deficits may ensue after repeated attacks, the long-term prognosis depends on successful prevention of attacks. The prognosis of AIP is good even in severe, acute attacks. [neupsykey.com]

This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life. [patient.info]

Prognosis If patients with HSN I receive appropriate counselling and treatment, the prognosis is good. Early treatment of foot infections may avoid serious complications. Also the complications are manageable, allowing an acceptable quality of life. [ojrd.biomedcentral.com]

The prognosis of the CNS phenotype of CMTX1 is usually spontaneous resolution without permanent deficit; therefore, promptly identifying the disease is vital to avoid unnecessary investigation and potentially harmful therapeutic intervention. [karger.com]

These patients with autonomic dysfunction may have slower resolution of their symptoms that may take several years and the prognosis is worse than in postviral gastroparesis without autonomic disorders ( 20, 21 ). [gi.org]

The Charcot foot has been documented to occur as a consequence of various peripheral neuropathies; however, diabetic neuropathy has become the most common etiology. [care.diabetesjournals.org]

Postsurgical gastroparesis (PSG), often with vagotomy or vagus nerve injury, represents the third most common etiology of gastroparesis. [gi.org]

Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation. [now.aapmr.org]

However, most of these conditions present in a rather stereotyped manner, and clarification of the precise etiology may require very elaborate procedures. [dartmouth.edu]

Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ. [nature.com]

Relevant External Links for DNAJB2 Genetic Association Database (GAD) DNAJB2 Human Genome Epidemiology (HuGE) Navigator DNAJB2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: DNAJB2 No data available for Genatlas for DNAJB2 Gene The chaperone [genecards.org]

Epidemiology Hereditary sensory neuropathy type I (HSN I) constitutes a clinically and genetically heterogenous group of disorders of low prevalence. No detailed epidemiological data are currently available. [ojrd.biomedcentral.com]

There may be several causes for such oxidative damage to motor neurons and the disease may just represent an end-stage phenotypic expression of these abnormalities. [ 4 ] Epidemiology MND is relatively uncommon with an annual incidence of about 2 cases [patient.info]

Epidemiology including risk factors and primary prevention HMSN is the most common inherited neuromuscular disease with overall prevalence of approximately 1/2500 and incidence 15/100,000 in the general population. [now.aapmr.org]

The epidemiology and impact of gastroparesis are reviewed elsewhere ( 2 ). [gi.org]

Inflammation plays a key role in the pathophysiology of the Charcot foot and is the earliest clinical finding. [care.diabetesjournals.org]

Attacks are five times more frequent in women and manifest usually in the third and fourth decades. 35.1.4.3 Pathophysiology Predominantly proximal motor axonal damage with Wallerian degeneration and secondary demyelination. [neupsykey.com]

Pathophysiology This is a degenerative condition that affects motor neurons, namely the anterior horn cells of the spinal cord and the motor cranial nuclei. [patient.info]

Importantly, CMT1A has one of the highest de novo mutation rates, similar to neurofibromatosis type 1, as discussed in Pathophysiology. Consequently, cases occur in which a family history is truly absent. [emedicine.medscape.com]

Pathophysiology and treatment of functional dyspepsia. Gastroenterology 2004;127:1239–1255. 4. Sarnelli G, Caenepeel P, Geypens B et al. Symptoms associated with impaired gastric emptying of solids and liquids in functional dyspepsia. [gi.org]

Prevention is based by awareness and avoidance of precipitating drugs and situations. [neupsykey.com]

MEDICAL TREATMENT The medical treatment of CN is aimed at offloading the foot, treating bone disease, and preventing further foot fractures ( 34 ). [care.diabetesjournals.org]

Primary prevention is genetic counseling. [now.aapmr.org]

This aims to prevent infection and further damage to the exposed spinal cord and spinal nerves. [physio-pedia.com]

Genetic counselling is an important tool for preventing new cases if this is wished by at-risk family members. [ojrd.biomedcentral.com]