Muscular Dystrophy

- Gauri Bhangre
- Gemini Patel
- Heenal Chedda
- Jasleen Kaur
- Juveriya Kondkari
Congenital Muscular dystrophy
• The congenital muscular dystrophies are a group of muscle conditions which
usually show symptoms at a very early age. In the great majority of cases of
congenital muscular dystrophy the initial symptoms are present at birth or in the
first few months.
• Hypotonia
• Contractures
• Respiratory problems
• In some children who do not have contractures the first problems are only noted
after a few months because of difficulties in holding the head or delay in learning
how to sit unaided, stand or walk.
 Inheritance

• The CMDs are caused by genetic defects that affect important muscle proteins.
Most forms of CMD are inherited in an autosomal recessive pattern.
• ECM
• Glycoproteins
• Many CMDs are due to mutations in glycoproteins. Loss of glycoproteins due to
mutation interferes with normal muscle function. A consequence of most CMD-
causing mutations is increased susceptibility to cellular injury from normal
contraction, and/or a reduction in the ability to repair damage.
 Types and Symptoms
• muscle weakness/ atrophy
• poor motor control
• inability to sit or stand without support
• scoliosis
• foot deformities
• trouble swallowing
• respiratory problems
• vision problems
• speech problems
• intellectual impairment
• CMD with abducted thumbs
• Walker Warburg Syndrome
• Ulrich congenital muscular dystrophy
• CMD with cerebral atrophy
Rehabilitation and it’s challenges
• Treatment is aimed at the specific symptoms and is highly specialized
• A team of specialists are required
• Occupational Therapy
• Speech therapy
• Swallowing studies
• Use of devices for mobility
• Surgeries to correct skeletal abnormalities
• Overnight sleep studies
• Regular monitoring of the heart
• Genetic counselling
• Psycho-social support
Limb gridle muscular dystrophy (LGMD’s)
• Walton and Nattrass first proposed limb-girdle muscular dystrophy (LGMD) as a
nosological entity in 1954.

• genetic muscle diseases characterized by slowly progressive weakness of hip

girdle, thighs, shoulder girdle and proximal arms(primarily a disorder of
voluntary/ skeletal muscles)

• Based on inheritance patterns, there are two types:

1) Autosomal dominant (LGMD type 1)
2) Autosomal recessive (LGMD type 2).
Most common in India
• Dysferlinopathy
• GNE myopathy
• calpainopathy,
• sarcoglycanopathies
Clinical picture
• · The clinical course of the limb-girdle muscular dystrophies is typically progressive, though some individuals
may show mild symptoms and/or the disease may stabilize.

• · Serum creatine kinase (CK) concentration is usually elevated.

• · Muscle biopsy typically shows degeneration/regeneration of muscle fibers ("dystrophic changes").

• Biochemical testing," i.e., immunostaining/immunoblotting of a muscle biopsy to determine if specific

proteins are present or absent.

• · In some cases, molecular genetic testing can be used to identify the specific disease-causing mutations.

• · Inflammatory myopathy should be excluded during the diagnostic process.

Course
• First notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and
leg muscles.

• Onset, progression, and distribution of the weakness and wasting may vary considerably among
individuals and genetic subtypes the involuntary muscles

• The heart (which is a special type of involuntary muscle) and brain (intellect & senses) aren’t affected in
LGMD.

• Digestion, bowel, bladder and sexual function remain normal.

• Cardiopulmonary complications sometimes occur in later stages of the disease (MDA).

• Over time, muscle weakness and atrophy can lead to limited mobility and disability .
Need for rehabilitation
• Overall, prognosis of LGMDs is dismal as there is no disease-
modifying treatment available. Hence management and supportive
treatment becomes important.
• Daily functioning such as participation in sports, work and hobbies.
Daily activities like personal care shopping taking care of oneself
becomes a problem
Rehabilitation
• Strength training
• Supervised aerobic exercise training
• Resistance training
Other Management techniques for
LGMDs
1) Cardiac function
2) Respiratory function
3) Nutrition
4) Learning disabilities,
5) Spinal deformities
6) Genetic testing
Reference
• Khadilkar, S. V., Faldu, H. D., Patil, S. B., & Singh, R. (2017). Limb-girdle Muscular Dystrophies in
India: A Review. Annals of Indian Academy of Neurology, 20(2), 87–95.
doi:10.4103/aian.AIAN_81_17
• Shefali Gambhir, Narkeesh Arumugam and Kanimozhi D(2016). Early Therapeutic intervention for
Limb Girdle Muscular Dystrophy in Late Adolescence – A Case Report. International Journal of
Medical Research &Health Sciences
Myotonic Dystrophy
• Myotonia is defined as the inability to relax muscles at will
Affected Areas:

•Muscles distant from the center of

the body

•Head, neck and face muscles

•Breathing, Swallowing

•Myotonia

•Heart

•Brain

•Internal Organs
 Why? How?
• : Evaluation:
• Nutrition Social Participation, personal
factors, performance factors,
environmental factors,
• Personal Care perception, cognition,
psychosocial skills.

• Mobility
Intervention:
• Educating patient, informing
• Housing about adaptive strategies,
identifying patient’s adaptive
strategies, daily living skills,
• Work energy conservation strategies.
 Physiatrists

Physical Occupational
Therapists Therapists

Rehabilitation

Nutrition
Primary
Speech Care
Therapists
Oculopharyngeal muscle dystrophy

• OPMD is a rare genetic condition that causes weakness in the

muscles around the upper eyelid and throat.
• OPMD affects both men and women, usually first appearing in
people after 40 years of age.
• The first symptoms are eyelid drooping and trouble swallowing.
• The swallowing problems increase the risk for potentially fatal
aspiration pneumonia.
• You may need procedures to help with swallowing or other
problems.
Cause...
• Opmd cause by defect in the gene that has information needed
to make a protein called polyadenylate- binding protein
(PABPN1). The defect leads to a build-up of PABPN1 in the
muscle cells. The PABPN1 clumps inside the muscle cells and
may cause the cells to die. This leads to muscle weakness.
Treatment

• Treatment for OPMD focuses on helping the swallowing problems,

eyelid drooping, or limb weakness.
• Surgery may also help correct severe eyelid drooping. Drooping
eyelids can interfere with vision, driving, and other activities. Eyelid
surgery (blepharoplasty) or tightening the muscle that lifts the
eyelid may help. In some cases, a sling can attach the eyelid to the
forehead muscle to help keep the lid open.
• Occupational therapy can help you find ways to adapt to arm and
leg weakness. You may benefit from leg braces, canes, or walkers.