Patient of Myotonic Dystrophy presented with Celebellar Infarction

Dr. Md Rashedul Islam FCPS, MRCP(UK)

Registrar, Neurology, BIRDEM

A 52 years old gentleman, diabetic and hypertensive hailing from Fotullah, Narayanganj got admitted into BIRDEM General Hospital under department of Neurology, on 8th February 2014 with the complaints of :

• Vertigo for four days

• Weakness of lower limb for two years.

According to the statement of the patient, he was relatively well four days back. Suddenly he experienced vertigo and unsteadiness. Vertigo was unrelated to change of his position such as bending over or look up. It was associated with nausea and vomiting.

H/O PRESENT ILLNESS…H/O PRESENT ILLNESS…

There was no history of blurring of vision, hearing impairment, tinnitus, aural fullness or aural discharge. On detailed query, he complained that he had been suffering from slowly progressive weakness of the both lower limb for last 2 years, which was more pronounced distally.

H/O PRESENT ILLNESS:

Gradually his movement had become clumsy and he was also experiencing weakness in the upper limbs for last 1 year. On further query, patient told that he had difficulty in gripping & releasing any object.

H/O PRESENT ILLNESS

H/O PAST ILLNESS:H/O PAST ILLNESS: Nothing contributoryNothing contributory

SOCIOECONOMIC HISTORY: He belongs to a middle class family

PERSONAL HISTORY:

He is non alcoholic, non smoker.

FAMILY HISTORY He had 2 brothers and 4 sisters. Among

them one brother died of heart disease 2 years back at the age of 50 years.

TREATMENT HISTORY:

Metformin

Amlodipin

GENERAL EXAMINATION:Appearance:

Expressionless face

Frontal baldness present

Bilateral partial ptosis

Built: average

Decubitus: on choice

Anaemia

Jaundice

CyanosisAbsent

GENERAL EXAMINATION:

Oedema

Dehydration

Clubbing Absent

Koilonychia

Leukonychia

Neck vein: not engorged

Thyroid: not enlarged

Lymphnode: not palpable

GENERAL EXAMINATION:

Skin pigmentation & body hair distribution: normal

Others: No thickened nerve

Pulse: 86 b/min

BP: 130/80 mmHg

Temp:98 F

RR: 16 breaths/min

Higher psychic function : Normal Speech: Hypophonic nasonated voice Cranial nerves : All cranial nerves

including both fundi were intact. GCS: 15/15

NERVOUS SYSTEM EXAMINATION

Muscle Rt. UL Lt. UL Rt. LL Lt. LL

Bulk reduced

reduced reduced reduced

Tone reduced reduced reduced reduced

MOTOR FUNCTION: MOTOR FUNCTION:

NERVOUS SYSTEM EXAMINATION

After gripping action myotonia was After gripping action myotonia was observed in both handsobserved in both hands

Percussion myotonia was presentPercussion myotonia was present

MOTOR FUNCTION: MOTOR FUNCTION:

Reflex B T S K A Abd Plantar

Right ↓ ↓ ↓ ↓ ↓ N Flexor

Left ↓ ↓ ↓ ↓ ↓ N Flexor

Sensory system:

Pain Temp Touch Vibration

Position sense

Right upper limb

N N N N N

Right lower limb

N N N N N

Left upper limb N N N N N

Left lower limb N N N N N

• Sign of Meningeal irritation - Absent

• Cerebellar sign :

Dysdiadochokinesia

Past Pointing On right side

Nystagmus

Intention tremor

Heel shin test: not co-ordinated

• Gait – Broad based ataxic gait

CARDIOVASCULAR SYSTEM EXAMINATION:

• Inspection: normal

• Palpation: Apex beat: on left 5th intercostal space medial to the mid clavicular line.

• Left parasternal heave: absent

• P2: not palpable

• auscultation: S1 & S2 is audible on all four auscultatory area.

Murmur: absent

ALIMENTARY SYSTEM:

• There was no significant abnormalities including gynaecomastia & testicular atrophy

SYSTEMIC EXAMINATIONS

Respiratory system:

no abnormality detected

Genitourinary system:

A 52 years old gentleman, diabetic, hypertensive got admitted with the complaints of vertigo and lower limb weakness. Vertigo was associated with nausea and vomiting without any blurring of vision, hearing impairment, aural discharge.

SALIENT FEATURE

SALIENT FEATURE

Patient had slowly progressive distal limb weakness over last 2 years, without any H/O pain, tingling, numbness of the limb or alteration of bowel and bladder function. Patient had expressionless face with frontal baldness & bilateral partial ptosis.

SALIENT FEATURE

He had hypophonic nasonated speech, reduced Muscle bulk more marked in distal limb and hypotonia. Power was 4/5. Deep tendon reflexes were reduced in all four limbs. Percussion myotonia and grip myotonia was present. Cerebellar sign on right side and ataxic gait was present. Vital signs and all other systemic examination revealed normal findings.

PROVISIONAL DIAGNOSISPROVISIONAL DIAGNOSIS

• Acute Stroke

• Myotonic Dystrophy

• Diabetes Mellitus Type 2

• Hypertension

DIFFERENTIAL DIAGNOSIS

• Paramyotonia

• Intracranial Space Occupying Lesion in Posterior Fossa

INVESTIGATIONS

CBC: Hb % - 13.2

WBC -7000 cu/mm

Neu-65 %

Lymph- 17.8 %

Mono -5.9 %

Eosino- 1.1%

Platelet- 195000

Lipid profile:

TG: 136 mg/dl

T. Chol : 122 mg/dl

LDL: 55 mg/dl

HDL: 40 mg/dl

ALT: 28 IU/LALT: 28 IU/LAST: 32 IU/LAST: 32 IU/L

CPK- 170 U/LCPK- 170 U/LTSH-1.5MU/LTSH-1.5MU/LS. TEST0STERONE-S. TEST0STERONE-15NMOL/L15NMOL/L

Liver Function test:Liver Function test:

SERUM ELECTROLYTES Na: 141 mmol/l K: 4.8 mmol/l

Cl: 108 mmol/l

HCO3: 23 mmol/l

Ca- 8.9 mmol/l

Mg- 0.8 mmol/l

Phosphate-2.8

RENAL FUNCTION TESTRENAL FUNCTION TEST

S. Urea: 21 mg/dl S. Creatinine:0.9mg/dl

HbA1C- 6.9%HbA1C- 6.9% FBS-6.1FBS-6.1 2ABF-7.32ABF-7.3 2AL-7.82AL-7.8 2AD-7.92AD-7.9

Sugar - Nil

Albumin – Nil

Ketone- Nil

Epi. cell: A few /HPF

Pus cell: 1-2 /HPF

RBC: Nil

URINE R/M/E

CHEST X-RAY

ECG

•Antero-inferior ischemia•Ectopic premature ventricular complex•RBBB

MRI OF BRAIN

MRI OF BRAIN

MRI OF BRAIN

MRI OF BRAIN

EMG

EMG

EMG

ECHOCARDIOGRAPHY :

• No RWMA (EF- 60%)

• Good LV systolic function

DOPPLER STUDY OF NECK VESSELS

• Normal finding

FINAL DIAGNOSIS:

Acute Stroke (Cerebellar)

Myotonic dystrophyMyotonic dystrophy

Diabetes mellitusDiabetes mellitus

HypertensionHypertension

Ischaemic Heart DiseaseIschaemic Heart Disease

TREATMENT:

• Lifestyle modification & Diabetic Diet

• Aspirin

• Atorvastatin

• Ramipril

• Metoprolol

• Phenytoin

TREATMENT

Patient was counseled about,

•Course and prognosis of the disease

•Genetic counseling

FOLLOW UP

• Patient was advised for follow up in Neurology OPD for clinical evaluation.

• He was advised for 24 Hours Holter monitoring & possible Electrophysiological Study.

ACKNOWLEDGEMENT :

• Department of Cardiology

• Department of Physical Medicine

• Department of Endocrinology

MYOTONIC DYSTROPHY

(REVIEW)

• Also called Dystrophia Myotonica (DM)

• Two autosomal dominant forms have

been identified: DM1 and DM2.

• Unlike other muscular dystrophies

because it is a multi-system disorder that

presents in a large variety of ways

GENETICS• Non coding triplet repeat expansion disease

•Location- On chromosome 19q, sequence(CTG) in the DMPK gene

CLINICAL PRESENTATION

DIAGNOSIS:

• Mainly clinical diagnosis

• Supported by-

Electromyography

Muscle biopsy

• Genetic study

• Others:

ECG

CPK

WHAT ARE THE EMG FINDINGS?

• High frequency activity that varies repeatedly to cause a characteristic sound on loud speaker (waxing and waning of motor unit action potential called Dive Bomber Effect)

TREATMENT:

• There is no specific treatment for myotonic dystrophy.

• Following are useful for alleviating myotonia.

Mexilletine

Procainamide

Phenytoin

GENETIC COUNSELLING IN MYOTONIC DYSTROPHY

• The smallest expansions of 50 to 60 repeats are found in older , unaffected, or mildly affected individuals, in topmost generations of the family• repeat size rises in the mutation next generation.

MYOTONIC DYSTROPHY & VASCULAR RISKS:

• It is well known that myotonic dystrophy is associated with the white matter lesion in the brain. There are few case reports of myotonic dystrophy patients presented with ischemic stroke

Reference: http://www.ncbi.nih.gov/pubmed/23803495

They are at high risk for arrhythmia and death. A severe abnormality on ECG and a

clinical diagnosis of atrial tachyarrhythmia were associated with a 3.5 fold and five fold

increase respectively in the risk of sudden death.

Reference: http//www.medscape.com/viewarticle/79012

PROGNOSIS:

• There is no definite prognostic marker

• Variable penetrance from person to person

• Life expectancy may be reduced due to

pulmonary, cardiac co-morbidity &

anaesthetic hazards.