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Duchenne Muscular Dystrophy

Clinical History
Examination
Investigations
Diagnosis
Treatment
Discussion
References

9 year old male child with progressive weakness of both lower limbs since 5 years and both upper limbs since 2 years.

Since 5 years: Difficulty in getting up from sitting and squatting position and difficulty in climbing stairs

Since 2 years: Difficulty in lifting arms overhead, difficulty in mixing food, writing and tripping of feet while walking.

At present: Increased tendency to fall, unable to walk and unable to lift arms.

Milestones till 5 years normal, after which motor milestones started regressing.

Family history: Two of the child’s maternal uncles died at the age of 18 years and 21 years with similar kind of clinical picture.

General Physical Examination, Vitals, and Anthropometric measurements are normal.

On Head to toe examination: Hypertrophy of calf muscles, Exaggerated lumbar lordosis,

Protuberant abdomen and Scoliosis seen.

No baldness, cataract, telangiectasia, high arched palate, syndactyly/ polydactyly, pectus carinatum/excavatum were found.

CNS Examination:
Higher Mental Functions:

Cranial Nerves: Normal

Motor System: Power is 3/5 at Shoulder Joint and 4/5 at Elbow, Wrist, Hip, Knee and Ankle Joint.
Reflexes: Normal

Sensory System: Normal

Gait: Waddling

Gower’s sign: Present **

CVS, RS, PA – NAD **

CBC: Normal
LFT: Normal
Urine Analysis: Normal
ECG: Normal
CK-NAC: 14000 U/L
Calcium: 9.9 mg/dl
Phosphorus: 5.6 mg/dl
Alkaline Phosphatase: 419 U/L
Nerve Conduction study: Normal
ECHO: Normal

Clinical Exome Sequencing Report:
A hemizygous two base pair deletion in exon 35 of the DMD gene was detected.

Duchenne Muscular Dystrophy

Prednisolone 1mg/kg
Physiotherapy and exercise
Psychosocial
Rehabilitation
Genetic Counselling
Yearly Cardiac follow-up

Duchenne muscular dystrophy

–  X-linked inherited neuromuscular disorder

– Mutation in DMD gene – chromosome xp21

– Deficient or defective synthesis of dystrophin protein.  [2]

-Prevalence – 1 in 3500 males. [1]

-Presents between 3 to 5 years of age

– Delayed motor milestones, progressive muscle weakness from proximal to distal, frequent falls with difficulty in running and jumping. [2]

-Clinical Examination: Calf muscle hypertrophy (gastrocnemius pseudohypertrophy, lordotic posture, waddling of gait, and poor hip excursion during running.

-Develop associated respiratory and cardiac ailments. Absence of regular monitoring or supportive care, young men with DMD typically die in their late teens and early 20.

Recent Advances:

  • Ataluren: Produces a dystrophin which is smaller but functional.
  • Studies on modulation of other muscular proteins like myostatin and utrophin .
  • Nano Particles as delivery system for DMD therapy[1][2]
  1. Falzarano M, Scotton C, Passarelli C, Ferlini A. Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Molecules. 2015;20(10):18168-18184.
  2. Facts about Duchenne & Becker Muscular Dystrophies [Internet]. Mdaustralia.org.au. 2019 [cited 4 April 2019]. Available from: http://mdaustralia.org.au/wp-content/uploads/2012/07/002_ducene_becker-july-2012
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