CASE 2
COMPLETE CASE REF - https://hitesh116.blogspot.com/2020/05/12may-2020-elog-medicine-intern.html?m=1
18 y/o M presented with CC of -
B/L LL WEAKNESS SINCE 20 DAYS ; Started 2 y/o insidious on onset and gradually progressing, starting from proximal to distal region of both LLs.
H/o B/L Non pitting edema in LLs.
He complains of difficulty in squatting and resuming upright position post-squatting, Difficulty in wearing and holding chappals.
NEGATIVE HISTORY - NO PROBLEM IN USING UPPER LIMBS AND NO HISTORY INDICATING CRANIAL NERVE INVOLVEMENT.
Priority Problems -
- B/L LL Weakness leading to inability to perform daily chores.
- B/L LL Non pitting edema.
- VASCULAR - ARTERIAL/VENOUS
- CNS
- PNS
- MUSCULOSKELETAL SYSTEM
[For Complete examination pls refer the original case, link provided in the beginning]
https://pubmed.ncbi.nlm.nih.gov/27854225/?from_term=Myasthenia+gravis+limb+weakness&from_pos=5
''Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls.''
But there is NO H/O FLUCTUATING WEAKNESS and ONLY LOWER LIMBS SEEM EFFECTED WHICH COUNTERS THE CLAIM w.r.t Myasthenia Gravis in this particular case.
- Lambert-Eaton-Myasthenic Syndrome : Effects proximal muscles of the limb and Lower limbs are more effected than upper limbs. BUT THE WEAKNESS IS RELIEVED AFTER ANY FORM OF EXERTION.
From the history, one can infer that weakness was gradually progressive, hence LEMS is ruled out.
NMJ DISORDERS SEEM UNLIKELY, GIVEN THE PT HISTORY AND CLINICAL FINDINGS.
- Ice Pack Test
- Electrophysiological Tests : REPETITIVE NERVE STIMULATION / SINGLE FIBRE ELECTROMYOGRAPHY
- Electromyography [EMG]
- Muscle Biopsy
- Genetic testing
- Electromyography
- Electromyography
- EMG
- Serum CK Levels
- MRI
- MRI
- Needle Biopsy
- Serum Cortisol
- Serum PTH
- Serum Calcium
INVESTIGATIONS AND DIAGNOSIS DONE FOR THE PATIENT
Consists of abnormal findings, for complete investigations, pls refer to the link of the original reference.
QUESTIONS -
'' non-inflammatory degenerative conditions of muscle that are genetically determined, not effectively curable, and progressive. The types of muscular dystrophy are usually classified according to inheritance and distribution of weakness ''
https://www.dartmouth.edu/~dons/part_3/chapter_21.html#chpt_21_muscle
- Most common mutation is in the gene coding the PROTEIN DYSTROPHIN which is important for muscle contractions to occur. Age of presentation and severity depends on the severity of mutation in coding dystrophin and pattern of inheritance.
- Power in both LL in 4/5
- Areflexia
- Normal Sensory system with no meningeal/cerebellar signs
- GRBS - 142mg/dl
- ARTERIAL Cause is ruled out - no complaint of claudication pain.
- VENOUS cause - B/L Non pitting edema, Chronic Venous Insufficiency ?
- LYMPHATIC OBSTRUCTION - May lead to non pitting edema. Filariasis /Severe Infection/ Chronic Inflammatory Condition?
- CNS - Areflexia with muscle weakness rules out possibility of UMN Lesion. It is an LMN Lesion.
- PNS - Lumbo-Sacral plexus provides the nervous supply to LL and its compression presents with pain and other symptoms; BUT THERE IS EVIDENCE OF PERIPHERAL NEUROPATHY
- NEURO-MUSCULAR JUNCTION - Weakness could be Because of pathology in NMJ. Myasthenia Gravis and Lambert Eaton Myasthenic Syndrome fit the Pt profile to more extent than other NMJ disorders , this does NOT mean to say that the focus of damage is NMJ.
https://pubmed.ncbi.nlm.nih.gov/27854225/?from_term=Myasthenia+gravis+limb+weakness&from_pos=5
''Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls.''
But there is NO H/O FLUCTUATING WEAKNESS and ONLY LOWER LIMBS SEEM EFFECTED WHICH COUNTERS THE CLAIM w.r.t Myasthenia Gravis in this particular case.
- Lambert-Eaton-Myasthenic Syndrome : Effects proximal muscles of the limb and Lower limbs are more effected than upper limbs. BUT THE WEAKNESS IS RELIEVED AFTER ANY FORM OF EXERTION.
From the history, one can infer that weakness was gradually progressive, hence LEMS is ruled out.
NMJ DISORDERS SEEM UNLIKELY, GIVEN THE PT HISTORY AND CLINICAL FINDINGS.
- MUSCLE DISEASE : With defect in muscle itself, referred to as MYOPATHY .
- Slowly progressive, painless, symmetrical proximal lower limb weakness followed by distal limb weakness
- Upper Limb Functions and other motor functions like speech, swallowing are intact
- Mental functions intact
- Age of onset - adolescence to early adulthood
- Becker's Muscular Dystrophy
- Limb-Girdle Muscular Dystrophy
- Sporadic late onset nemaline myopathy
- Endocrine Myopathy
- Polymyositis
- MYASTHENIA GRAVIS Class IIa
- Ice Pack Test
- Electrophysiological Tests : REPETITIVE NERVE STIMULATION / SINGLE FIBRE ELECTROMYOGRAPHY
- BECKER'S MUSCULAR DYSTROPHY
- Electromyography [EMG]
- Muscle Biopsy
- Genetic testing
- POLYMYOSITIS
- Electromyography
- Electromyography
- LIMB GIRDLE MUSCULAR DYSTROPHY
- EMG
- Serum CK Levels
- MRI
- SPORADIC LATE ONSET NEMALINE MYOPATHY
- MRI
- Needle Biopsy
- ENDOCRINE MYOPATHIES
- Serum Cortisol
- Serum PTH
- Serum Calcium
INVESTIGATIONS AND DIAGNOSIS DONE FOR THE PATIENT
Consists of abnormal findings, for complete investigations, pls refer to the link of the original reference.
- ELEVATED GRBS - 142mg/dl - PRE DIABETIC
- PERIPHERAL SMEAR - NORMOCYTIC NORMOCROMIC WITH LEUKOCYTOSIS
- ELEVATED TLC WITH LYMPHCYTOSIS
- ELEVATED UREA, URIC ACID, CREATININE, PHOSPHORUS, CHLORIDE IN RFT
- ALBUMIN PRESENT IN URINE
- MUSCLE BIOPSY GIVES EVIDENCE OF ATROPHY/NECROSIS OF MUSCLE FIBRES ; IMPRESSION OF POLYMYOSITIS/MUSCULAR DYSTROPHY
QUESTIONS -
- PT HAS ELEVATED LEVELS OF COMPONENTS IN RFT, OUT OF WHICH FEW ELEVATIONS CAN BE EXPLAINED w.r.t THE CORTICOSTEROID THERAPY AND SALICYLATE THERAPY, OTHERS ARE NOT. ALBUMIN IS SEEN IN URINE, COULD THE PT HAVE CHRONIC RENAL PATHOLOGY ?
- CHANGE IN MUSCLE WEAKNESS w.r.t TEMPERATURE ?
- HOW LONG HAS THE NON PITTING B/L LL EDEMA BEEN THERE ? DID IT CHANGE TO NON-PITTING TYPE OVER A PERIOD OF TIME?
- 2 YEARS IS A LONG TIME, DID THE PATIENT NOT SEE ANY OTHER PHYSICIAN ? RELEVANT DRUG HISTORY WHICH MIGHT HELP ?
- COULD HE BE PRONE TO DIABETES ?
- COULD THE REASON FOR B/L NON PITTING LL EDEMA BE MUSCULAR WEAKNESS WHICH LEADS TO DECREASED VENOUS RETURN AND VENOUS STASIS, OVER A PERIOD OF TIME CAUSING FIBROSIS ?
- ANATOMICAL LOCATION OF LESION
- MOST LIKELY ETIOLOGY AND PATHOLOGY
'' non-inflammatory degenerative conditions of muscle that are genetically determined, not effectively curable, and progressive. The types of muscular dystrophy are usually classified according to inheritance and distribution of weakness ''
https://www.dartmouth.edu/~dons/part_3/chapter_21.html#chpt_21_muscle
- Most common mutation is in the gene coding the PROTEIN DYSTROPHIN which is important for muscle contractions to occur. Age of presentation and severity depends on the severity of mutation in coding dystrophin and pattern of inheritance.
- THERAPEUTIC OPTIONS
1. AVOIDANCE OF INACTIVITY FOR A LONG DURATION
2. PHYSIO-THERAPY
3. ORTHOPEDIC APPLIANCES TO HELP IN MOTILITY, STABILITY AND SELF CARE.
-PHARMACOLOGICAL
- PREDNISONE HELPS IN PRODUCTION OF THE PROTIEN UTROPHIN WHICH RESEMBLES DYSTROPHIN AND SLOWS MUSCULAR DETERIORATION IMPROVING THE QUALITY OF LIFE.
The above is supported by a RCT linked below -
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