Rare Diseases

Isovaleric acidemia symptoms: Spot the signs early

Early signs of isovaleric acidemia symptoms include a sweaty‑feet odor, poor feeding, vomiting, lethargy, and seizures.

Leigh syndrome life expectancy, symptoms & treatments

Leigh syndrome life expectancy depends on age of onset, gene type and care; early diagnosis and team support can extend survival.

Small Round Cell Sarcoma: What You Need to Know

small round cell sarcoma is a rare aggressive tumor. Find its key signs, diagnostic steps, and multimodal treatment approaches.

Becker Muscular Dystrophy: Symptoms, Causes & Treatment

Becker muscular dystrophy causes muscle weakness, calf enlargement, heart problems; learn symptoms, diagnosis, treatment options.

Multiple system atrophy: symptoms, treatment & outlook

Multiple system atrophy causes rapid movement loss and autonomic failure. Find key symptoms, diagnosis, treatment and outlook.

Distal spinal muscular atrophy: causes, symptoms & treatments

Distal spinal muscular atrophy causes hand‑to‑foot weakness; learn symptoms, genetic testing, treatment and coping tips.

Spinraza dosage: essential guide for SMA patients

Spinraza dosage details: loading schedule, maintenance timing, administration steps, and safety monitoring for SMA patients.

Alpers disease symptoms: What to watch for and why

Watch for Alpers disease symptoms like refractory seizures, growth failure, vision loss and liver problems to get medical help.

Acute hemorrhagic leukoencephalitis: An overview

Acute hemorrhagic leukoencephalitis causes brain injury and high mortality; learn symptoms, MRI findings, and treatment.

Canavan disease – Symptoms, Causes, Diagnosis & Treatment

Canavan disease causes head enlargement, floppy muscles, delays and seizures. MRI, NAA testing and genetic diagnosis guide care.

Eosinophilic Fasciitis: Symptoms, Causes, Treatment & Outlook

Eosinophilic fasciitis causes painful swelling and tight skin; find symptoms, diagnosis, treatment and outlook.

Inborn Metabolic Disorders: What You Need to Know

Inborn metabolic disorders cause vague symptoms, growth delays, and crises. Key signs, diagnostic steps, and effective treatments.

Acid lipase deficiency: Symptoms, Causes & Care

Acid lipase deficiency causes high LDL, liver enlargement and early heart disease; see symptoms, diagnosis and enzyme therapy.

Lesch-Nyhan syndrome: What It Is, Symptoms & Care Guide

Lesch‑Nyhan syndrome causes uric‑acid buildup, neurologic issues, and self‑injury; learn symptoms, diagnosis, and care tips.

Cerebellar Hypoplasia Causes: Understanding & Support

Find key cerebellar hypoplasia causes, how they affect symptoms, and the best treatment and support options for families.

Holoprosencephaly Symptoms: What to Watch For and Why They Matter

Identify holoprosencephaly symptoms—facial anomalies, delayed milestones, seizures, and hormonal signs—to get care fast.

Adrenoleukodystrophy Symptoms: What to Watch For

Identify adrenoleukodystrophy symptoms—vision loss, behavior changes, adrenal fatigue—to get fast diagnosis and treatment.

Myotonic Dystrophy Explained: Types, Symptoms, Treatment

Myotonic dystrophy overview covering types, symptoms, diagnosis and treatment options, plus latest research and care tips.

Zellweger syndrome: Symptoms, causes, and key facts

Zellweger syndrome is a rare peroxisomal disorder with neonatal symptoms, organ failure and short survival; learn diagnosis, care.

Refsum disease: causes, diagnosis, and treatment

Refsum disease causes vision loss, anosmia and neuropathy; early testing and a low‑phytanic diet can halt damage and improve life.

Congenital muscular dystrophy: key facts parents can trust

Trusted guide on congenital muscular dystrophy: spot early signs, understand diagnosis, and learn care strategies for your child.

Netherton syndrome: symptoms, causes, outlook

Netherton syndrome overview: quick guide to symptoms, diagnosis, treatment options and long‑term outlook for patients of all ages.

Zolgensma dosage: what to expect, how it works, and how to feel ready

Zolgensma dosage is a one‑time 1.1 × 10¹⁴ vg/kg IV infusion followed by a steroid course and regular lab monitoring to protect liver health.

Facioscapulohumeral muscular dystrophy: a warm, practical guide

Guide to facioscapulohumeral muscular dystrophy covering symptoms, diagnosis steps, management tips, and research updates.