Neurology TOSCE 2

Mr GK is a 32 yo pianist who presented to his GP reporting progressive difficulty with

his piano playing over the previous 18 months. He also noted clumsiness while walking,
frequently tripping over steps when climbing the stairs. While shaking his hand by way of
introduction, the GP noticed that Mr GK held his grip for a long time. On examination
there was evidence of wasting of the intrinsic muscles of the hands and a bilateral foot
drop. He had a characteristic facies (see picture below).

GK reported a family history of muscle weakness which mapped out as follows.

GK

Comment on GKs appearance from the above photo.

Frontal balding
Long thin face
Sunken Cheeks-wasting of masseter muscles
Temporalis wasting
Bilateral Ptosis
Describe the inheritance pattern above:
Autosomal Dominant inheritance: affected individuals in 3 successive generations. Each
affected individual has only one affected parent.

What is the diagnosis?

Myotonic Dystrophy (Type 1)

What clinical feature of this disorder did the GP elicit on shaking GKs hand?
Grip myotonia

What is the pathophysiological basis for this disease?

CTG Trinucleotide repeat expansion on dystrophia myotonica protein kinase gene

On further questioning GK revealed that his father developed muscle problems in his
50s and his grandmother reportedly had no difficulty with muscle weakness until she was
an elderly lady.

What phenomenon does this pattern suggest?

Anticipation

List 3 associated features of this disorder:

Cataracts
Cardiac Conduction Defects-1stDegAVB, BBB
Hypogammaglobulinaemia
Infertility
DM (Insulin Resistance)
Smooth muscle involvement: GIT: IBS like symptoms (bloating, abdo cramps, altered
bowel habit)
Neuropathy (in 46%)

How is this condition diagnosed?

Diagnosis is clinical: +ve FHx, premature frontal balding, long thin face, bilat ptosis,
sunken cheeks.
DM1; genetic testing: CTG repeat on DMPK gene
DM2: genetic testing: CCTG repeat on ZNF9 gene

What investigations are of use in this case?

EMG: myotonia
Slit-lamp exam: post subcapsular cataracts
Muscle bx
ECG-BBB
CK mildly elevated but not good for diagnosis
IgG, IgM low