What is CMT 2F?

What is CMT 2F?

Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes .

What is the most common type of CMT?

CMT1. CMT1, the most common type of the disease, accounting for about two-thirds of cases, is caused by genetic defects that damage the myelin sheath covering the nerves. It is commonly referred to as demyelinating CMT.

What is a CMT blood test?

The comprehensive metabolic panel (CMP) is a blood test that gives doctors information about the body’s fluid balance, levels of electrolytes like sodium and potassium, and how well the kidneys and liver are working.

Can CMT cause erectile dysfunction?

CMT is usually considered to be a condition characterised by peripheral neuropathy. Therefore, the report by Stojkovic et al. (2003) of a family with CMT and features of autonomic neuropathy may suggest that erectile dysfunction in men with CMT may have an autonomic basis.

Is CMT a muscular dystrophy?

No, CMT is not a type of muscular dystrophy. CMT is primarily a disease of the peripheral nerves, whereas muscular dystrophy is a group of diseases of the muscle itself. CMT causes weakness and impaired sensory perception because signals can’t get to and from the brain to muscle and skin, among other things.

What are the 5 main types of CMT caused by different mutations in genes?

The most common CMT subtypes were CMT1A, CMT1X, HNPP, CMT1B, and CMT2A.

What is CMT type 4C?

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle …

When is CMT usually diagnosed?

CMT is usually first noticed when someone develops lower leg weakness and foot drop, and foot deformities such as hammertoes and high arches, but that alone will not lead to diagnosis. A visit to a neurologist will start with a physical exam to look for further signs of distal weakness and sensory loss.

What causes Charcot-Marie-Tooth disease type 2F (cmt2f)?

Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions.

Is there a cmt2f gene in the telomeric part of linked region?

Based on a recombinant in a 76-year-old unaffected individual, the presence of the CMT2F gene in the telomeric part of the linked region was unlikely. In affected members of a Russian family with CMT2F, previously reported by Ismailov et al. (2001), Evgrafov et al. (2004) identified a mutation in the HSPB1 gene (S135F; 602195.0001 ).

How old do you have to be to have Charcot-Marie-Tooth type 2?

The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life.