Approach to Neurodegenerative Disorder - Simple and Easy

 

NEURODEGENERATIVE DISEASE

 Whom to suspect: 

A neurodevelopmental disorder that involves a progressive deterioration in nervous functions. The course of the disorder can either be acute or chronic, depending on the specific condition

In some cases, the disorder may present with an early normal development, followed by regression or slowing in the acquisition of new skills. It is important to exclude postnatal complications such as kernicterus, meningitis, and head trauma and to consider any family history of similar conditions.

If the individual is experiencing an inherited NDD, symptoms such as IUGR, failure to thrive, poor sucking, weak crying, repeated vomiting, and early or unexplained deaths may be present. The duration of the disorder should be observed for at least three months to confirm a diagnosis.

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FRIEDREICH ATAXIA

FRIEDREICH 

F- Frataxin protein (GAA trinucleotide repeat

R-Romberg test positive

I-Intelligence preserved

E-Extenxor plantar response (Babinski sign)

D-Deep tendon reflex absent (Particularly at ankle)

R-Recessive inheritance (Autosomal)

E- Explosive dysarthric speech and nystagmus

I-Impaired spine curvature (kyphoscoliosis)

C- Cardiomyopathy(hypertrophic type)

       CHF common cause of death

H-Hammer toes and pes cavus

ATAXIA TELANGIECTASIA

Mnemonics- ATAXIA

A-Ataxia

  ATM gene  (Defective DNA repair)

    Increase sensitivity to Ionizing radiation

   AR(Autosomal recessive)

T-Telangiectasia on the bulbar conjunctiva

A-Adenocarcinoma and lymphoreticular

malignancy

XI - 11 chromosome (eleven)

A-Alfafetoprotein increased

     A(Ig) decreased, IgE decreased

Galactosemia in neonates presents with vomiting, distended abdomen, diarrhea, and reducing sugar in the urine, and it is caused by a deficiency in galactose-1-phosphate uridyl transferase, which leads to conjugated hyperbilirubinemia, seizures, and cataract in children

Mnemonics: LACTOSE-FREE

L- Lactose-free diet is given

A- Autosomal inheritance

C- Cataract (oil drop ), vitreous hemorrhage 

T- Typically symptoms appear after feeding milk (after a few days or week after birth)

O- ZERO (0) effect of glucagon on hypoglycemia

S- SNHL, Soya-based formula is given

E- E coli sepsis is common 

F- Fanconi syndrome (aminoaciduria, phosphaturia, proteinuria)

R- Renal tubular dysfunction

     Reducing sugar is detected by the Benedict test

E- Enzyme assay for confirmation of diagnosis (galactose-1-phosphate uridyl transferase,         Epimerase and galactokinase)

E- Extra prolongation of neonatal jaundice

Gaucher disease mnemonics

NIEMANN PICS DISEASE

Abetalipoproteinemia