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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.

Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.

Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

Most spinal cord injury patients in Korea experience skin problems, especially fungal infections and eczema, affecting their quality of life.

Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

A girl with Pitt-Hopkins syndrome developed curly hair as a rare side effect from the epilepsy drug perampanel.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.

Hair examination helps diagnose rare neurological diseases in children.

A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.

ECCL should be considered in patients with specific skin and eye lesions.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.

The condition might be caused by genetic changes after birth.

An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.

Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.

The twins' condition is unique and doesn't match any known syndromes.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

Surgery may help infants with sagittal craniosynostosis develop more typical language processing.