Singapura

PRA-rdac - Progressive Retinal Atrophy

Progressive loss of vision

Description: Progressive rod-cone degeneration

Symptoms : Progressive loss of vision (at night and then in daylight) culminating in blindness

Age of onset : Between 1 and 2 years old

Frequency : Not available

Gene involved : CEP290

Tested mutation : IVS50 + 9T>G

Transmission : Autosomal Recessive

Patent : _

Notes : _

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Singapura

PKDef - Pyruvate Kinase Deficiency

Hemolytic anaemia

Description: Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to an anaemia more or less severe according to individuals

Symptoms : Lethargy, diarrhea, pale mucous membranes, lack of appetite, weight loss, icterus

Age of onset : Variable. Some rare cases declare an early severe form. Anaemia may only be moderate and intermittently detectable. In mild cases, symptoms may be late onset.

Frequency : 42% carriers in the studied population (USA and UK)

Gene involved : PKLR

Tested mutation : c.693+304G>A

Transmission : Autosomal Recessive

Patent :

Notes :

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Singapura

HK - Periodic Hypokalaemic Polymyopathy

Episodic muscle weakness

Description: Episodes of low serum potassium levels leading to muscle damages

Symptoms : Episodic muscle weakness, muscle pain, ventroflexion of the head and neck, locomotor difficulties

Age of onset : Between 2 and 10 months old

Frequency : Not available

Gene involved : WNK4

Tested mutation : c.2899C>T

Transmission : Autosomal Recessive

Patent : -

Notes :

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