alpha-dna

DISEASE INFORMATION

alpha-dottore

Disease management

Symptoms and Diagnosis

Signs and symptoms vary amongst people who have the condition. In general, affected individuals may have intellectual disability, distinctive facial features, immunodeficiency, hearing impairment and skeletal abnormalities.1

Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue.2

LEARN MORE ABOUT THE DIAGNOSIS OF ALPHA-MANNOSIDOSIS

At least three clinical types of Alpha Mannosidosis (mild, moderate, and severe) have been suggested, classified according to the severity of the symptoms3

Type 1

MILD FORM

A mild form, clinically recognized after ten years of age, with absence of skeletal abnormalities, and very slow progression.

Type 2

MODERATE FORM

A moderate form, recognized before ten years of age, with presence of skeletal abnormalities, slow progression and development of ataxia at age 20-30. This is the most common form.

Type 3

SEVERE FORM

A severe form, immediately recognized with skeletal abnormalities, and obvious progression, leading to an early death from primary central nervous system involvement or myopathy.

However, given the variety of mutations that have been documented, the broad range and severity of symptoms, and no link between particular mutations and symptomatology, the disease is considered clinically as a continuum, from mild to severe.45

Most Common Symptoms6

LEARN MORE ABOUT MISLEADING SYMPTOMS
5-29%

5%-29% of people have these symptoms

  • Arthritis
  • Aseptic necrosis
  • Dental malocclusion
  • Bad bite
  • Hallucinations
  • Increased intracranial pressure
  • Macrocephaly
  • Recurrent respiratory infections
  • Synostosis of joints
  • Fusion of joints
  • Widely spaced teeth
30-79%

30%-79% of people have these symptoms

  • Abnormality of the helix
  • Bowed long bones
  • Chronic otitis media
  • Generalised abnormality of skin
  • Hip dysplasia
  • Hypertelorism
  • Wide-set eyes
  • Inguinal hernia
  • Kyphosis
  • Hunched back
  • Macrotia
  • Large ears
  • Muscular hypotonia
  • Narrow palate
  • Open bite
  • Absence of overlap of upper and lower teeth
  • Prominent supraorbital ridges
  • Prominent brow
  • Scoliosis
  • Short neck
  • Decreased length of neck
80-99%

80%-99% of people have these symptoms

  • Cataract
  • Cloudy lens
  • Coarse facial features
  • Coarse facial appearance
  • Corneal opacity
  • Craniofacial hyperostosis
  • Delayed skeletal maturation
  • Delayed bone maturation
  • Hearing impairment
  • Hepatomegaly
  • Enlarged liver
  • Hypoplastic inferior ilia
  • Intellectual disability
  • Skeletal dysplasia
  • Splenomegaly
  • Increased spleen size
  • Type 2 diabetes mellitus
  • Noninsulin-dependent diabetes

Other symptoms may include: 7

Delay in developing motor skills such as sitting and walking
Speech impairments
Hepatosplenomegaly
Hydrocephalus
Eye problems, such as cataract and myopia
Painful inflamed joints
Mental health problems, such as depression, anxiety, or hallucinations
Heart and kidney problems may also be present

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