Spot the Early Signs of AM (Alpha-mannosidosis)

The Excellence in Pediatrics Spot The Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.

Alpha-mannosidosis (AM) is an ultra-rare genetic disorder caused by a deficiency of the lysosomal enzyme alpha-mannosidase. The symptoms, severity, and progression of alpha-mannosidosis vary widely between individuals, making diagnosis challenging and often delayed. Minimizing the time to diagnosis is important in ensuring that individuals with alpha-mannosidosis and their families receive timely access to support and specialist MDT care.

To assist, EIP has launched the Spot the Early Signs of AM Resource Centre to spread education among frontline pediatricians and general practitioners, helping them understand the disease and recognise the symptoms when they examine patients. The Resource Centre offers a platform for members to collaborate, engage, and interact, providing easy access to information and educational resources when needed. This facility is available for members themselves and for sharing with colleagues. All recorded webinars are free to view via the Recorded Webinars Section, along with further information on the Faculty, the Upcoming Live New Webinars and how you can Join Us to motivate your colleagues to ‘Think Rare’ in every consultation.

VIDEOS OF RECORDED WEBINARS ON ALPHA-MANNOSIDOSIS | 6 SESSIONS

What Every Pediatrician Needs to Know about the AM Patient’s Journey

Dr Christina Lampe (University Hospital of Giessen, Germany)

Understanding What Happens Next - From Diagnosis to Early Treatment of Alpha-mannosidosis

Dr Florian Lagler (Paracelsus Medical University, Austria)

Diagnosing Alpha-mannosidosis in Practice

Nathalie Guffon (Femme Mère Enfant Hospital, Lyon)

See all

PUBLICATIONS

Enzyme replacement therapy with velmanase alfa: Novel global treatment response model and outcomes in patients with alpha-mannosidosis

Molecular Genetics and Metabolism

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa

Journal of Inborn Errors of Metabolism and Screening

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis

Journal of Inherited Metabolic Diseases

See all

JOIN THE PROGRAM NETWORK

Join the Spot the Early Sign Program Network and help mobilise child healthcare professionals' collective power to ’think rare’ and look for the signs of rare diseases in every consultation. As a network member, you can volunteer as the primary contact point in your clinic, hospital or institution and disseminate the Spot the Early Signs material and resources to your colleagues. You can also volunteer to deliver a Spot the Early Signs Webinar in a local language with all slides and material provided by EIP. Signing up and accessing all the latest guidance, webinars, and educational materials is free.

Add your details

First Name*

Last Name*

Email*

Mobile phone

Send me email updates

Send me text messages

Address (Street, City, State, Zip)

Country

I want to volunteer

ARE YOU INTERESTED IN OTHER RARE DISEASES?



Alpha-mannosidosis: Minimising Delays in Diagnosis and Referral of Patients The symptoms, severity, and progression of AM vary widely between individuals, making diagnosis challenging and often delayed. Minimising the time to diagnosis is important in ensuring that individuals with AM and their families receive timely access to support and specialist MDT care. Visit our resource centre to access 6 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.

Metachromatic Leukodystrophy: Minimising Delays in Diagnosis and Referral of Patients Early-onset symptoms can often be confused with those of other conditions, leading to misdiagnosis, incorrect referrals, and delays in treatment. Visit our resource centre on MLD to access 10 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.

Mucopolysaccharidosis: Understanding the path to successful diagnosis of MPS in children Misdiagnosis of MPS often leads to delayed diagnosis, as symptoms are commonly mistaken for other conditions. This frequently results in attempts to treat symptoms directly, thus postponing the actual diagnosis and treatment or referring the patient to incorrect pediatric specialties. Explore our MPS resource centre to discover 38 free webinars. These sessions are tailored to enhance your understanding of the disease and guide you through the referral and diagnosis process.