research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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30 / 1000+ resultsresearch Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Reply
The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
research The impact of radial extracorporeal shock wave therapy on the plantar flexor muscle in children with spasticity
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates
Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
research Human T‐lymphotropic virus 1 (HTLV‐1)‐associated lichenoid dermatitis induced by CD8+ T cells in HTLV‐1 carrier, HTLV‐1‐associated myelopathy/tropical spastic paraparesis and adult T‐cell leukemia/lymphoma
HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
research #1697882 "A" Vitamin to Consider: Refractory Hypercalcemia from Vitamin A Toxicity
Vitamin A toxicity can cause serious health issues like hypercalcemia and is often overlooked.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature
A woman with lupus and severe nerve damage improved with specific treatments.
research Poster 252 Patient Registry of Outcomes in Spasticity Care
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Muscle weakness of the lower limbs after epidural anesthesia in a pregnant woman with undiscovered systemic lupus erythematosus
Undiagnosed lupus can cause severe complications after epidural anesthesia, leading to muscle weakness and potentially death.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Pendekatan Diagnosis Ensefalomielitis Diseminata Akut
ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.