Monogenic and

Mitochondrial Diseases
Genetic disorders are caused by a mutation in a single gene or a
mutation in the mitochondrial DNA. This presentation will cover some of
the most common monogenic diseases and their clinical features.

by Ervin Hoxha
Facioscapulohumeral Dystrophy (FSHD)

What is it? Symptoms Treatment

An inherited muscle Difficulty raising arms, No cure exists yet, but

disorder that affects the winged shoulder blades, physical therapy and
face, shoulder blades, and asymmetrical face, and speech therapy can help
upper arms. It causes hearing loss. Severity varies manage symptoms.
muscle weakness and widely. Assistive devices may also
wasting. be used.
Duchenne and Becker Muscular
Dystrophy (DMD and BMD)

DMD BMD

The most common form of muscular dystrophy. A less severe form of DMD. Muscle weakness
It primarily affects boys, causing muscle occurs later in life and progresses more slowly.
weakness and wasting. onset is usually before
age 5.
Friedreich's Ataxia (FC)
Symptoms

Dysarthria, scoliosis, diabetes mellitus, and

vision loss may also occur. Age of onset is
usually before age 25.

1 2 3

Signs Treatment

Loss of coordination, muscle weakness, and No cure is currently available. Physical

tingling in the hands and feet are common therapy and speech therapy, along with
symptoms. Heart disease often co-occurs. assistive devices like braces, can help
manage symptoms.
Spinal Muscular Atrophy
(SMA)
1 Types 2 Clinical Features

Type 1 is the most severe Weakness and wasting of

and typically leads to early muscles responsible for
death. Type 2 is less severe crawling, walking,
but still manifests in early breathing, and swallowing.
childhood. Scoliosis may also occur.
Leber's Hereditary Optic Neuropathy

Causes Treatment

A genetic mutation that affects the mitochondria, No cure exists yet, but treatments include gene
leading to the death of optic nerve cells. It causes therapy, stem cell therapy, and medications.
a rapid loss of vision in both eyes.
Retinitis Pigmentosa (RP)

Pathology Common symptoms

A group of inherited disorders characterized Tunnel vision, loss of central vision, and
by progressive degeneration of the retina. It difficulties with color perception. There is no
primarily affects the rod cells, leading to known cure and prognosis varies widely.
night blindness.