38/M with weakness
A 38 year old male, a resident of chandanapally, nalgonda district came to the hospital with complaints of difficulty in walking since 8 years
Chief complaints: difficulty in walking since 8 years (2014 March)
Feeling weak during walking since 7 years (2015 January)
History of present Illness: The patient had difficulty while walking, while getting up from chair without support, but gets up from chair with support, difficulty in squatting, difficulty in sitting on floor, difficulty in getting up without support from floor.
Initially he had difficulty in going uphill but since 3 years he was complaining of difficulty in walking on level ground also.
Uphill: steps are difficult
Downhill: comparatively easier steps than uphill
Difficulty in running
The patient did not have any difficulty in wearing chappals, holding chappals. He did not have any problem in removing chappals. However he complained that it was easier to walk without chappals since there was lesser weight lifting needed.
After having these symptoms for 8-9 months the patient went to the hospital for checkup and was given medication for which there is no record of with the patient. According to the patient, he was not on regular medication and the medication didn’t improve his symptoms.
Overtime, he had feeling of heaviness of upperlimb while lifting his hand over the head which progressed over time to having difficulty in lifting his arm to shake hands , eat his food and take his brush from the cupboard. He complains that he has to give an increased initial try for him to lift his hand.
After initiating combing, he doesn’t have any difficulty in combing the hair. He feels that it is difficult to move the brush in his mouth.
Difficulty in lifting food to mouth. Not associated with falling of food particles and not associated with falling of food from mouth. No difficulty in chewing food after putting food in the mouth.
Difficulty in bathing with mug. Washes more on the right side with difficulty in washing on the left side.
Difficulty in getting from bed without support since 1 year. No difficulty in turning to sides on bed.
No difficulty in eating, chewing, closing eyes, swallowing food, whistling, shouting, winking.
Complaints of intermittent spasm of muscles after prolonged sitting. Complaints of muscle cramps.
No complaint of difficulty in feeling things he touches. No difficulty in feeling chappals sensation. As he walks without chappals he is used to pain while walking and says that his feet are more prone to injuries.
He doesn’t have any difficulty in feeling pain when there is an injury. He doesn’t have ulcerations or abnormal sensations anywhere on the body.
He is able to feel the temperature of the water while bathing.
The patient doesn’t have any complaints of blurring of vision, difficulty in smell, double vision, vision difficulties, no loss of area of vision, no difficulty in swallowing and tasting, normal facial expressions, no difficulty in hearing sounds of low intensity or high intensity.
No difficulty in turning head, no difficulty in eating or drinking.
No history of loss of consciousness, no irritability to light or sound, no loss of memory, no abnormal visions, sounds, the patient does not use spectacles.
The patient complains the he feels bad that he lost his job as a watchman because of the difficulty in working after onset of difficulty in walking and weakness. But he does not have history of acting out. He feels bad about not earning money but he tells that he got used to the complaints over time.
No history of headaches, nausea, vomiting, involuntary movements.
The patient does not complain of loss of balance or falls but he tells that sometimes while getting up from a chair, he doesn’t have the power to get up and sits back.
No complaints of urgency, hesitancy, increase in frequency during night, difficult in initiating urination, burning during urination.
He had complaints in difficulty in passing stools intermittently for which he takes more water or a tablet and the symptom subsides. He didn’t contact doctor for the complaint as it was intermittent and reduced with more intake of water and bananas.
No history of fever, sleep disturbances, no history of injury to feet.
Birth history: The patient had history of second degree consanguinity and was born at home with the help of dai and apparently without any problem after birth in his words.
He walked without support at 3 years and started talking in sentences at 7 years of age. He has stuttering while talking but doesn’t have a problem in formation of sentence, language or difficulty in pronunciation of words. He says that he stutters more when there is lack of sleep.
Family history: No history of similar complaints in the family. His mother and father died in an accident and he is not married due to his stuttering problem at first and weakness later.
Personal history: The patient was a smoker previous for 6 months in 2012 but stopped later.
He is an occasional alcoholic and drinks one glass of toddy during festivals. No sleep and appetite abnormalities. No bowel and bladder abnormalities.
Past history: The patient had a history of fall from cycle in 2012 after which he had a fracture in the left wrist but did not go to the hospital and took Ayurveda treatment. Now there is a deformity in the left wrist and reduced range of movement with difficulty in using the hand.
No known history of diabetes, hypertension, bronchial asthma, allergies, tuberculosis, jaundice or prolonged hospital stay.
Drug history: No known usage of drugs for more than 1 week, no history of usage of injections in the hospitals. No known history of any drug allergies.
Summary: Based on the above history the patient had slowly progressive weakness of the lower limbs more proximal than the distal and overtime it progressed to the upper limbs with more proximal weakness than distal and he developed weakness in the trunk overtime. He doesn’t have spasticity or rigidity in the muscles. He doesn’t have sensory complaints. He complains weakness more in the lower limbs than upper limbs. He has no cerebellar, autonomic system, cranial nerves or higher mental function abnormalities. The patient had history of consanguinity, delayed milestones and history of malunited left wrist fracture.
General physical examination: The patient is conscious, coherent, comfortable, cooperative. No distress or features of pain. The patient doesn’t appear pale.
There is no icterus, clubbing, cyanosis, pedal edema, generalised lymphadenopathy on examination.
Weight- 54 kgs
Height- 162 cms
BMI- 20.57 kg/m2
BP- 110/70mm Hg
Hair, nails, skin and spine- normal
Systemic examination:
Neurological examination:
Higher mental functions: The patient is conscious, appears comfortable, language and behaviour appears normal.
Orientation to time place and person normal. Mood and emotional status appears normal.
Memory: immediate, recent and remote memory tested- normal.
Mini mental status examination score- orientation-5/5
Registration-3/3
Attention and calculation- 2/5
Recall- 3/3
Total score- 25/30
No illusions or hallucinations
Speech: normal verbal output, fluency, repetition, naming, reading, writing.
Appearance- no tics, tremors, myoclonus, involuntary or voluntary movements
Motor examination:
Bulk:
upper limb- right upper limb- 24.5 cms above elbow, 22cms below elbow
Left upper limb- 23.5cms above elbow, 22 cms below elbow
Lower limb- right lower limb- 43 cms above knee, 32 cms below knee
Left lower limb- 43 cms above knee, 32 cms below knee
Tone: hypotonic in right upper limb and lower limb, hypotonic in left upper limb and lower limb.
Power: Right Left
Upper limb- distal flexors- -4/5 -4/5
Proximal flexors 3/5 3/5
Hand muscles- extensor pollicis longus- 3/5 on both sides, all the others are 4/5 power
Trunk muscles- 3/5 on both sides
Lowerlimb- hip muscles- iliopsoas- 3/5 on both sides
Adductor femoris- 3/5 on both sides
Hamstring muscles- 3/5 on both sides
Gastrocnemius muscles- -4/5 on both sides
Extensor hallucis longus- -4/5 on both sides
Coordination- normal coordination of movements
Reflexes: biceps- reduced but present + on both sides
Supinator- + on both sides
Triceps- + on both sides
Ankle - + on both sides
Plantar- flexor response on both sides
Sensory examination:
touch- normal on both sides
Temperature- both hot and cold sensation normal on both sides
Vibration- normal on both sides
Joint position- 5/6 times on right side, 6/6 times on left side
Cerebellar examination:
Hypotonia- present
No rebound phenomenon
Finger nose test- normal
Finger finger test- normal
Heel shin test- normal
No past pointing, intentional tremor or gait abnormalities.
Gait: normal stride, Normal width, normal turning, The patient is not able to walk on toes.
Cranial nerves: normal smell and vision
Pupillary light reflex- normal, accommodation reflex - normal, normal manual perimetry, normal primary eye movements, normal sensations over the face, normal glabellar tap, corneal reflex, conjunctival reflex and jaw jerk, normal facial expressions, normal taste sensations all over tongue, no deviation of facial muscles or tongue muscles. Normal shrugging, head turn against pressure.
Autonomic system: no bowel bladder abnormalities, no abnormal sweating, no orthostatic hypotension, no postprandial syncopal attacks, no history of falls with loss of consciousness.
Intracranial pressure: no signs of raised intracranial pressure
Skull and spine: normal
Cardiovascular system:
Inspection: normal on inspection, no visible pulsation, apex beat not visualised. No visible lesions on chest. Equal and symmetrical chest movements with respiration.
Palpation: apex beat felt on the left 5th intercostal space 1cm medial to mid clavicular line. All the findings of inspection are confirmed.
Percussion- all the borders of heart normal on percussion
Auscultation- s1, s2 heard.
No added sounds, no murmurs heard, normal split heard in s2.
Respiratory system:
Inspection- normal on inspection, no visible pulsation, apex beat not visualised. No visible lesions on chest. Equal and symmetrical chest movements with respiration.
Palpitation- apex beat felt on the left 5th intercostal space 1cm medial to mid clavicular line. All the findings of inspection are confirmed.
Percussion- no abnormal findings on percussion
Auscultation- normal vesicular breath sounds heard equally on both sides
Abdominal examination:
Inspection- normal on inspection, no visible pulsations, no visible lesions on abdomen.
Palpation- no organomegaly
Percussion-
Auscultation- bowel sounds heard at normal frequency
Ecg-
Chest X-ray- normal
Serum creatine phoshokinase- 780 IU/ lit
Nerve conduction study- normal
Elctromyography- reduced amplitude with polyphasic motor response- suggests myopathy
Muscle biopsy report-
Final diagnosis:
Based on the above history, examination and findings, the most probable diagnosis is progressing symmetrical proximal muscular dystrophy involving both lower limbs and upper limbs without any known family history or heart involvement so most probably could be beckers or limb girdle muscular dystrophy based on the above mentioned findings.
Differential diagnosis- the other possible diagnosis could be chronic inflammatory demyelination syndrome but it is predominantly sensory and in this case sensory findings are minimal.
Other possible diagnosis could be proximal motor neuropathy or neuronopathy but there is no history of diabetes or involvement of muscles of neck, swallowing.
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